(Q3508686)

English

Saethre-Chotzen syndrome

acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull

acrocephalosyndactyly type III
Saethre–Chotzen syndrome
SCS

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acrocephalosyndactylia

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30 November 2020

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15 May 2019

autosomal dominant disease

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30 November 2020

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Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation

stated in

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

stated in

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

FGFR2

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stated in

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

on focus list of Wikimedia project

WikiProject Medicine

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ICPC 2 ID

A90

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imported from Wikimedia project

Spanish Wikipedia

NCI Thesaurus ID

C75034

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15 May 2019

http://purl.obolibrary.org/obo/DOID_14768

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30 November 2020

http://identifiers.org/doid/DOID:14768

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stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

said to be the same as

aurocephalosyndactyly

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Commons category

Saethre-Chotzen syndrome

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Identifiers

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30 November 2020

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imported from Wikimedia project

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28 October 2013

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Microsoft Academic ID

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15 May 2019

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15 May 2019

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Saethre–Chotzen syndrome

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commonswiki Category:Saethre-Chotzen syndrome