Literature DB >> 25073799

Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome.

Ron Agatep1, Cheryl Shuman, Leslie Steele, Nicole Parkinson, Rosanna Weksberg, Tracy L Stockley.   

Abstract

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Keywords:  GPC3; MLPA; Simpson-Golabi-Behmel; c.338-?_1292+?del; mosaicism

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Year:  2014        PMID： 25073799     DOI： 10.1002/ajmg.a.36682

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  1 in total

1.  CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Authors:  Marie-Laure Vuillaume; Marie-Pierre Moizard; Alessandra Baumer; Edouard Cottereau; Frédéric Brioude; Anita Rauch; Annick Toutain
Journal:  Eur J Hum Genet       Date:  2019-01-25       Impact factor: 4.246
  1 in total

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