Literature DB >> 8267002

Johnson-McMillin syndrome: report of another family.

R C Hennekam1, F J Holtus.   

Abstract

We describe a mother and son with facial nerve palsy, multiple truncal café-au-lait spots, and mild developmental delay. The mother also had hyposmia, increased tendency to caries, and growth retardation, and the son hypotrichosis, hearing loss, and microtia. This apparently autosomal dominant disorder was described first by Johnson et al. [1983: Am J Med Genet 15:497-506] and Johnston et al. [1987: Am J Med Genet 26:925-927].

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Year:  1993        PMID: 8267002     DOI: 10.1002/ajmg.1320470526

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


  2 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
  2 in total

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