Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of  SHH ,  TGIF ,  SIX3 ,  GLI2 ,  TP73L , and  DHCR7  as candidate genes | Zendy

ZechiCeide Roseli Maria | Zendy; Ribeiro Lucilene Arilho | Zendy; Raskin Salmo | Zendy; Bertolacini Claudia Danielli Pereira | Zendy; GuionAlmeida Maria Leine | Zendy; RichieriCosta Antonio | Zendy

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Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of SHH , TGIF , SIX3 , GLI2 , TP73L , and DHCR7 as candidate genes

Author(s) -

ZechiCeide Roseli Maria,

Ribeiro Lucilene Arilho,

Raskin Salmo,

Bertolacini Claudia Danielli Pereira,

GuionAlmeida Maria Leine,

RichieriCosta Antonio

Publication year - 2009

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.32844

Subject(s) - ectrodactyly , holoprosencephaly , gli2 , medicine , dermatology , gene , genetics , biology , pregnancy , fetus , sonic hedgehog , ectodermal dysplasia

We describe a Brazilian boy with semilobar holoprosencephaly, ectrodactyly, bilateral cleft of lip and palate, and severe mental retardation. The karyotype was normal and the screening for mutations in the genes SHH , TGIF , SIX3 , GLI2 , TP73L , and DHCR7 did not show any change. This rare condition was described previously in seven male patients. Clinical and genetic aspects are discussed. © 2009 Wiley‐Liss, Inc.

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