Literature DB >> 1345516

Alopecia, mental retardation, epilepsy and microcephaly in two cousins.

C Pridmore1, M Baraitser, E M Brett.   

Abstract

We report two cousins, born to consanguineous parents, with an alopecia-mental retardation syndrome and the additional features of microcephaly and epilepsy. Similar reported cases are reviewed and genetic heterogeneity is suggested.

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Year:  1992        PMID： 1345516

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  2 in total

1.  Association of AHSG with alopecia and mental retardation (APMR) syndrome.

Authors:  M Reza Sailani; Fereshteh Jahanbani; Jafar Nasiri; Mahdiyeh Behnam; Mansoor Salehi; Maryam Sedghi; Majid Hoseinzadeh; Shinichi Takahashi; Amin Zia; Joshua Gruber; Janet Linnea Lynch; Daniel Lam; Juliane Winkelmann; Semira Amirkiai; Baoxu Pang; Shannon Rego; Safoura Mazroui; Jonathan A Bernstein; Michael P Snyder
Journal:  Hum Genet       Date:  2017-01-04       Impact factor: 4.132

2.  Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome.

Authors:  Ahmad S Teebi; Lucie Dupuis; Diane Wherrett; Anthony Khoury; Kenneth J Zucker
Journal:  Eur J Pediatr       Date:  2003-12-23       Impact factor: 3.183
  2 in total

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