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| Ullah,Asmat; Gul,Ajab; Umair,Muhammad; Irfanullah,; Ahmad,Farooq; Aziz,Abdul; Wali,Abdul; Ahmad,Wasim. |
| Abstract Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been identified. This study described four consanguineous families (A-D) segregating SHFM in an autosomal recessive manner. Linkage in the families was established to chromosome 12p11.1–q13.13 harboring WNT10B gene. Sequence analysis identified a novel homozygous nonsense variant (p.Gln154*) in exon 4 of the WNT10B gene in two families (A and B). In the other two families (C and D), a previously reported variant (c.300_306dupAGGGCGG; p.Leu103Argfs*53) was... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Split-Hand-Foot Malformation 6; WNT10B gene; Sequence variants. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100001 |
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