A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay.

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A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay.

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http://www.wikidata.org/entity/Q42933135

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2014 nî lūn-bûn

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2014年の論文

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2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

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2014年論文

@zh-tw

2014年论文

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2014年论文

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2014年论文

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A novel (paternally inherited) ...... phism and developmental delay.

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label

A novel (paternally inherited) ...... phism and developmental delay.

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prefLabel

A novel (paternally inherited) ...... phism and developmental delay.

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P1476

A novel (paternally inherited) ...... phism and developmental delay.

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P2093

E Atack

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H Fairtlough

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K Smith

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P2860

Glypicans

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

Glypican-6, a new member of the glypican family of cell surface heparan sulfate proteoglycans

Central roles of the roof plate in telencephalic development and holoprosencephaly

Characterising and predicting haploinsufficiency in the human genome.

Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

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245-250

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scholarly article

case report

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10.1159/000358538

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Meena Balasubramanian

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2014-02-19T00:00:00Z

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267740589

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25337073

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