(Q33673260)

28 July 2017

title

Recurrence of Pallister-Hall syndrome in two sibs (English)

1 reference

28 July 2017

main subject

Pallister-Hall syndrome

1 reference

Thomas HM

1

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28 July 2017

Todd PJ

series ordinal

2

1 reference

28 July 2017

Heaf D

series ordinal

3

1 reference

28 July 2017

Fryer AE

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 February 1994

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

31

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28 July 2017

issue

2

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28 July 2017

page(s)

145-147

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Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome).

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049678

Three additional cases of the congenital hypothalamic "hamartoblastoma" (Pallister-Hall) syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049678

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049678

Extending the Pallister-Hall syndrome to include other central nervous system malformations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049678

Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049678

Congenital hypothalamic hamartoma syndrome: Nosological discussion and minimum diagnostic criteria of a possibly familial form

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049678

Congenital hypothalamic hamartoblastoma syndrome: natural history and genetic implications

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8182722

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.31.2.145

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28 July 2017

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28 July 2017

1 reference