Literature DB >> 1799422

Scalp defect, nipples absence and ears abnormalities: an other case of Finlay syndrome.

M Le Merrer1, D Renier, M L Briard.   

Abstract

Bilateral absence of nipples is an exceptional defect. We report the second family with the association of scalp defect, abnormally shaped ears and absence of nipples described by Finlay as an autosomal dominant trait.

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Year:  1991        PMID： 1799422

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  1 in total

1.  Mutations in KCTD1 cause scalp-ear-nipple syndrome.

Authors:  Alexander G Marneros; Anita E Beck; Emily H Turner; Margaret J McMillin; Matthew J Edwards; Michael Field; Nara Lygia de Macena Sobreira; Ana Beatriz A Perez; Jose A R Fortes; Anne K Lampe; Maria Luisa Giovannucci Uzielli; Christopher T Gordon; Ghislaine Plessis; Martine Le Merrer; Jeanne Amiel; Ernst Reichenberger; Kathryn M Shively; Felecia Cerrato; Brian I Labow; Holly K Tabor; Joshua D Smith; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2013-03-28       Impact factor: 11.025
  1 in total

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