Saethre-Chotzen syndrome: Notable intrafamilial phenotypic variability in a large family with Q28XTWIST mutation-Reference-Cited by-同舟云学术

Saethre-Chotzen syndrome: Notable intrafamilial phenotypic variability in a large family with Q28XTWIST mutation

Published:2002-04-19 Issue:3 Volume:109 Page:218-225
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dollfus H�l�ne,Biswas Partha,Kumaramanickavel Govindsamy,Stoetzel Corinne,Quillet Renaud,Biswas Jyotirmay,Lajeunie Elisabeth,Renier Dominique,Perrin-Schmitt Fabienne

Publisher

Wiley

Subject

Genetics(clinical)

Reference18 articles.

1. The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome

2. Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities

3. Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22

4. Mutations of the TWIST gene in the Saethre-Chotzene syndrome

5. Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome

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1. TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients;Journal of Pediatric Genetics;2023-07-28

2. TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse;Developmental Biology;2022-10

3. Lateral and Frontal Cephalometric Measurements in a Cohort With Saethre-Chotzen Syndrome;The Cleft Palate-Craniofacial Journal;2020-11-06

4. Saethre-Chotzen syndrome: Case report and literature review;Dental and Medical Problems;2018-06-30

5. Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature;International Journal of Molecular Sciences;2017-09-17