(Q24514980)

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A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities

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Europe PubMed Central

title

A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities (English)

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author name string

J Elliott

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1

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E L Maltby

series ordinal

2

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B Reynolds

series ordinal

3

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language of work or name

English

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publication date

March 1993

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published in

Journal of Medical Genetics

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volume

30

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issue

3

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page(s)

251-2

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cites work

A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016311

retrieved

27 September 2017

A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016311

retrieved

27 September 2017

Terminal deletion (14)(q32.3): a new case

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016311

retrieved

27 September 2017

Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016311

retrieved

27 September 2017

Deletion 14q and pericentric inversion 14

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016311

retrieved

27 September 2017

Distal monosomy 14 not associated with ring formation.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016311

retrieved

30 May 2018

Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin)

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7682620

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin)

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7682620

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PubMed publication ID

7682620

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ResearchGate publication ID

15515785

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(Q24514980)

A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities

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