Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

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First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules.

P2860

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P2860

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

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http://www.wikidata.org/entity/Q53994637

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh

2016年學術文章

@zh-hant

name

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

@en

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

@nl

type

Item

label

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

@en

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

@nl

prefLabel

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

@en

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

@nl

P1476

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome

@en

P2093

Faustina Lalatta

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

Giulia Lanzoni

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

Marco Baccarin

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

Marco Seri

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

Pamela Magini

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

Patrizia Mongelli

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

Simona Boito

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

Tommaso Pippucci

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

Tommaso Rizzuti

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P2860

The Sequence Alignment/Map format and SAMtools

Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome

Fast and accurate long-read alignment with Burrows-Wheeler transform

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Simpson-Golabi-Behmel syndrome types I and II.

Chromosomal microarray versus karyotyping for prenatal diagnosis.

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.

P304

3258-3264

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scholarly article

P356

10.1002/AJMG.A.37873

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English

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P478

170

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P50

Flavia Palombo

P577

2016-09-09T00:00:00Z

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P698

27612164

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Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

about

P2860

P2860

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698