Literature DB >> 8533801

Alopecia/mental retardation syndrome.

V L Hannig1, G E Tiller.   

Abstract

We report on an African-American patient with alopecia universalis, microcephaly, hypogonadism, and mental and growth retardation, and compare his phenotype to others with recessive alopecia/mental retardation syndromes in the literature. Our patient represents the first case reported from nonconsanguineous African-American parents.

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Year:  1995        PMID： 8533801     DOI： 10.1002/ajmg.1320580206

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  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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