2. Academic Validation
  3. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes

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

  • Am J Med Genet A. 2009 Jun;149A(6):1277-9. doi: 10.1002/ajmg.a.32844.
Roseli Maria Zechi-Ceide 1,  Lucilene Arilho Ribeiro,  Salmo Raskin,  Claudia Danielli Pereira Bertolacini,  Maria Leine Guion-Almeida,  Antonio Richieri-Costa
Affiliations

Affiliation

  • 1 Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil.
PMID: 19449411 DOI: 10.1002/ajmg.a.32844
Abstract

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.

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