Literature DB >> 708615

An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples.

A Y Finlay, R Marks.   

Abstract

A syndrome, consisting of a congenital abnormality of the scalp, ears and nipples inherited as an autosomal dominant trait, is reported. Ten affected members of a family over five generations are recorded and the four living affected members are described in detail. A review of congenital localized aplasias of skin suggests that this may be a new syndrome.

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Year:  1978        PMID: 708615     DOI: 10.1111/j.1365-2133.1978.tb06182.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


  6 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

2.  In-silico QTL mapping of postpubertal mammary ductal development in the mouse uncovers potential human breast cancer risk loci.

Authors:  Darryl L Hadsell; Louise A Hadsell; Walter Olea; Monique Rijnkels; Chad J Creighton; Ian Smyth; Kieran M Short; Liza L Cox; Timothy C Cox
Journal:  Mamm Genome       Date:  2015-01-01       Impact factor: 2.957

Review 3.  Genetics of aplasia cutis reveal novel regulators of skin morphogenesis.

Authors:  Alexander G Marneros
Journal:  J Invest Dermatol       Date:  2014-10-30       Impact factor: 8.551

4.  Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.

Authors:  Giovanni Smaldone; Nicole Balasco; Luciano Pirone; Daniela Caruso; Sonia Di Gaetano; Emilia Maria Pedone; Luigi Vitagliano
Journal:  Sci Rep       Date:  2019-07-19       Impact factor: 4.379

5.  Scalp-ear-nipple syndrome: a case report.

Authors:  Estela Morales-Peralta; Vivian Andrés; Dainé Campillo Betancourt
Journal:  Case Rep Med       Date:  2014-02-09

6.  KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.

Authors:  Lingyu Hu; Li Chen; Liu Yang; Zi Ye; Wenhuan Huang; Xinxin Li; Qing Liu; Junlu Qiu; Xiaofeng Ding
Journal:  Mol Med Rep       Date:  2020-08-24       Impact factor: 2.952

  6 in total

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