Literature DB >> 3591836

Alopecia-anosmia-deafness-hypogonadism syndrome revisited: report of a new case.

K Johnston, M Golabi, B Hall, M Ito, A Grix.   

Abstract

Johnson et al [1983] reported on a large family with alopecia-anosmia-deafness-hypogonadism syndrome. We report the detailed findings of an unrelated, affected individual and emphasize the presence of hypohidrosis in our case. Our case indicates that this syndrome is not a private syndrome.

Entities:  

Mesh：

Year:  1987        PMID： 3591836     DOI： 10.1002/ajmg.1320260422

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


  3 in total

1.  Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

Authors:  Christopher T Gordon; K Nicole Weaver; Roseli Maria Zechi-Ceide; Erik C Madsen; Andre L P Tavares; Myriam Oufadem; Yukiko Kurihara; Igor Adameyko; Arnaud Picard; Sylvain Breton; Sébastien Pierrot; Martin Biosse-Duplan; Norine Voisin; Cécile Masson; Christine Bole-Feysot; Patrick Nitschké; Marie-Ange Delrue; Didier Lacombe; Maria Leine Guion-Almeida; Priscila Padilha Moura; Daniela Gamba Garib; Arnold Munnich; Patrik Ernfors; Robert B Hufnagel; Robert J Hopkin; Hiroki Kurihara; Howard M Saal; David D Weaver; Nicholas Katsanis; Stanislas Lyonnet; Christelle Golzio; David E Clouthier; Jeanne Amiel
Journal:  Am J Hum Genet       Date:  2015-03-12       Impact factor: 11.025

2.  Johnson-McMillin Microtia Syndrome: New Additional Family.

Authors:  Nagwa Abdel-Meguid; Ola Hosny Gebril; Ehab Ragaa Abdelraouf; Mohammed Akmal Shafie; Mohammed Bahgat
Journal:  J Family Med Prim Care       Date:  2014-07

3.  Primary hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a fifth family and review.

Authors:  Ruqayah G Y Al-Obaidi; Bassam M S Al-Musawi
Journal:  Clin Case Rep       Date:  2017-08-24
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.