Literature DB >> 9383029

Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome.

G Plessis1, M Le Treust, M Le Merrer.   

Abstract

The association of scalp defect, unusual ears and absence of nipples was described by Finlay & Marks as an autosomal dominant trait. We report a new case in a 23-year-old woman. Renal insufficiency and cataract seem to be frequent and must be investigated.

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Mesh：

Year:  1997        PMID： 9383029     DOI： 10.1111/j.1399-0004.1997.tb02553.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  AP-2β/KCTD1 Control Distal Nephron Differentiation and Protect against Renal Fibrosis.

Authors:  Alexander G Marneros
Journal:  Dev Cell       Date:  2020-06-17       Impact factor: 12.270

2.  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

3.  PTPRF is disrupted in a patient with syndromic amastia.

Authors:  Surasawadee Ausavarat; Siraprapa Tongkobpetch; Verayuth Praphanphoj; Charan Mahatumarat; Nond Rojvachiranonda; Thiti Snabboon; Thomas C Markello; William A Gahl; Kanya Suphapeetiporn; Vorasuk Shotelersuk
Journal:  BMC Med Genet       Date:  2011-03-31       Impact factor: 2.103
  3 in total

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