前脑无裂畸形、缺指（趾）畸形以及双侧唇腭裂：排除SHH、TGIF、SIX3、GLI2、TP73L和DHCR7作为候选基因。
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes.
作者信息
Zechi-Ceide Roseli Maria, Ribeiro Lucilene Arilho, Raskin Salmo, Bertolacini Claudia Danielli Pereira, Guion-Almeida Maria Leine, Richieri-Costa Antonio
机构信息
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil.
出版信息
Am J Med Genet A. 2009 Jun;149A(6):1277-9. doi: 10.1002/ajmg.a.32844.
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.
我们描述了一名患有半叶前脑无裂畸形、缺指（趾）畸形、双侧唇腭裂和严重智力迟钝的巴西男孩。其核型正常，对SHH、TGIF、SIX3、GLI2、TP73L和DHCR7基因的突变筛查未发现任何变化。这种罕见病症先前在7名男性患者中已有描述。本文对其临床和遗传学方面进行了讨论。
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