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Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity?
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8958318
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
title
Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity?
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8958318
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
main subject
heterogeneity
1 reference
based on heuristic
inferred from title
polysyndactyly
1 reference
based on heuristic
inferred from title
hamartoma
1 reference
based on heuristic
inferred from title
author name string
Grebe TA
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8958318
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
Clericuzio C
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8958318
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
language of work or name
English
0 references
publication date
1 December 1996
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8958318
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8958318
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
volume
66
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8958318
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8958318
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
page(s)
129-137
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8958318
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
cites work
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part II: Neuropathological considerations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Hypothalamic hamartoma associated with Laurence-Moon-Biedl syndrome. Case report and review of the literature
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Smith-Lemli-Opitz syndromes: Do they include the Pallister-Hall syndrome?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Congenital hypothalamic hamartoma syndrome: Nosological discussion and minimum diagnostic criteria of a possibly familial form
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Extending the Pallister-Hall syndrome to include other central nervous system malformations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Twin fetuses with abnormalities that overlap with three midline malformation complexes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Pallister-Hall syndrome associated with an unbalanced chromosome translocation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Familial Pallister-Hall syndrome: case report and hormonal evaluation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Familial Pallister-Hall syndrome: three affected offspring
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Recurrence of Pallister-Hall syndrome in two sibs
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Autosomal dominant transmission of the Pallister-Hall syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961211%2966%3A2%3C129%3A%3AAID-AJMG2%3E3.0.CO%3B2-M
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M
0 references
PubMed publication ID
8958318
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8958318
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 October 2019
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