NDLI: Familial syndrome resembling Aarskog syndrome.

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Familial syndrome resembling Aarskog syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Xu, Mingzhi Qi, Ming Zhou, Huali Yong, Jing Qiu, Huiqing Cong, Peikuan Hong, Xutao Li, Chengjiang Jiang, Yan Chen, Xiao Yu, Yunsong
Description	Country affiliation: China Author Affiliation: Xu M ( Department of Endocrinology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.)
Abstract	Aarskog(-Scott) syndrome (AAS) is characterized by short stature, and facial, limb, and genital anomalies. AAS can be an X-linked condition caused by mutations in the FGD1 gene, but there is evidence that an autosomal dominant or recessive form also exists. We report on a Chinese family in whom several members have manifestations of AAS, but differ in limb anomalies and show additional characteristics. FGD1 sequencing and linkage analysis excluded FGD1 as the cause in this family. A common known submicroscopic chromosome imbalance is less likely. Both autosomal dominant and recessive patterns of inheritance remain possible.
File Format	HTM / HTML
ISSN	15524825
Issue Number	8
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-08-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Genetics Genetic Diseases, X-linked Guanine Nucleotide Exchange Factors Intellectual Disability Mutation Female Humans Infant, Newborn Male Pedigree Syndrome Case Reports Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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