Literature DB >> 4155960

A familial syndrome of short stature associated with facial dysplasia and genital anomalies.

D Aarskog.   

Abstract

The following report presents the clinical findings and natural history of a growth disorder affecting seven male patients from the same family. In addition to short stature they all had a similar pattern of anomalies and the condition appears to constitute a previously undescribed, probably X-linked recessive, nosologic entity.

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Mesh:

Year:  1971        PMID: 4155960

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  2 in total

1.  The Aarskog syndrome.

Authors:  J P Fryns; J Macken; L Vinken; L Igodt-Ameye; H van den Berghe
Journal:  Hum Genet       Date:  1978-06-09       Impact factor: 4.132

2.  Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study.

Authors:  Yijia Liang; Honglin Wu; Xiumei He; Xiyu He
Journal:  Front Genet       Date:  2022-08-16       Impact factor: 4.772

  2 in total

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