Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH.

about

Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH.

Item

http://www.wikidata.org/entity/Q47745464

description

2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年学术文章

@wuu

2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

2013年學術文章

@zh

2013年學術文章

@zh-hant

name

Saethre–Chotzen syndrome with ...... ST microdeletion by array CGH.

@en

Saethre–Chotzen syndrome with ...... ST microdeletion by array CGH.

@nl

type

Item

label

Saethre–Chotzen syndrome with ...... ST microdeletion by array CGH.

@en

Saethre–Chotzen syndrome with ...... ST microdeletion by array CGH.

@nl

prefLabel

Saethre–Chotzen syndrome with ...... ST microdeletion by array CGH.

@en

Saethre–Chotzen syndrome with ...... ST microdeletion by array CGH.

@nl

P1476

Saethre–Chotzen syndrome with ...... IST microdeletion by array CGH

@en

P2093

Baik-Lin Eun

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

Eun-Sim Shin

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

Eunhe Cho

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

Gun-Ha Kim

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

Tae Hwan Yang

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

P2860

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

Mutations in the human TWIST gene.

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Saethre-Chotzen syndrome.

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.

Saethre-Chotzen syndrome: a case report.

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

P2888

s00381-013-2235-0

P304

2101-2104

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

P31

scholarly article

P356

10.1007/S00381-013-2235-0

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

P433

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

P478

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

P50

Jung Hye Byeon

P577

2013-11-01T00:00:00Z

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

P698

23958897

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