First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray - Wikidata - awgldk - TriplyDB

First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray

First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray

http://www.wikidata.org/entity/Q33625722

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First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray

http://www.wikidata.org/entity/Q33625722

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2017 nî lūn-bûn

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2017 թուականի Մարտին հրատարակուած գիտական յօդուած

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2017 թվականի մարտին հրատարակված գիտական հոդված

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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name

First reported case of Simpson ...... ly with chromosomal microarray

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First reported case of Simpson ...... ly with chromosomal microarray

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label

First reported case of Simpson ...... ly with chromosomal microarray

@ast

First reported case of Simpson ...... ly with chromosomal microarray

@en

prefLabel

First reported case of Simpson ...... ly with chromosomal microarray

@ast

First reported case of Simpson ...... ly with chromosomal microarray

@en

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Clinical case reports

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First reported case of Simpson ...... ly with chromosomal microarray

@en

P2093

Heidi Kristine Støve

http://www.w3.org/2001/XMLSchema#string

Mette Ramsing

http://www.w3.org/2001/XMLSchema#string

Naja Becher

http://www.w3.org/2001/XMLSchema#string

Vibike Gjørup

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P2860

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene

Glypicans in growth control and cancer

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Simpson-Golabi-Behmel syndrome types I and II.

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.

Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.

Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome.

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

P304

608-612

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scholarly article

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10.1002/CCR3.902

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5

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5

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Else Marie Vestergaard

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2017-03-17T00:00:00Z

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28469860

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5412752

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