Literature DB >> 11920840

Scalp defects, polythelia, microcephaly, and developmental delay: a new syndrome with apparent autosomal dominant inheritance.

Michael Marble1, Gabriella Pridjian.   

Abstract

We report a family with apparent autosomal dominant inheritance of scalp defects, polythelia, microcephaly, and developmental delay. A review of the literature revealed no previous report of this combination of anomalies. We conclude that these patients have a new autosomal dominant syndrome. Copyright 2002 Wiley-Liss, Inc.

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Year:  2002        PMID: 11920840     DOI: 10.1002/ajmg.10280

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


  1 in total

1.  UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.

Authors:  Rhonda E Schnur; Sairah Yousaf; James Liu; Wendy K Chung; Lindsay Rhodes; Michael Marble; Regina M Zambrano; Nara Sobreira; Parul Jayakar; Mary Ella Pierpont; Matthew J Schultz; Pavel N Pichurin; Rory J Olson; Gail E Graham; Matthew Osmond; Gustavo A Contreras-García; Karina A Campo-Neira; Camilo A Peñaloza-Mantilla; Mark Flage; Srikar Kuppa; Karina Navarro; Maria J Guillen Sacoto; Ingrid M Wentzensen; Maria I Scarano; Jane Juusola; Carlos E Prada; Robert B Hufnagel
Journal:  Genet Med       Date:  2021-05-26       Impact factor: 8.822

  1 in total

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