Holoprosencephaly, Ectrodactyly, and Bilateral Cleft of Lip and Palate: Exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as Candidate Genes
| Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
|---|---|
| Data(s) |
19/10/2012
19/10/2012
2009
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| Resumo |
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. (C) 2009 Wiley-Liss, Inc. State of Sao Paulo Research Foundation (FAPESP) National Council for Scientific and Technological Development (CNPq)[310659/2006-0] National Council for Scientific and Technological Development (CNPq)[470996/2006-4] National Council for Scientific and Technological Development (CNPq)[301926/2007-7] |
| Identificador |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.149A, n.6, p.1277-1279, 2009 1552-4825 http://producao.usp.br/handle/BDPI/26934 10.1002/ajmg.a.32844 |
| Idioma(s) |
eng |
| Publicador |
WILEY-LISS |
| Relação |
American Journal of Medical Genetics Part A |
| Direitos |
restrictedAccess Copyright WILEY-LISS |
| Palavras-Chave | #holoprosencephaly #ectrodactyly #cleft lip-palate #causative genes #SPLIT HAND/FOOT #HYPERTELORISM #ASSOCIATION #DEFICIENCY #MUTATIONS #BOY #Genetics & Heredity |
| Tipo |
article original article publishedVersion |
