Nonsyndromic Split-Hand/Foot Malformation: Recent Classification
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference43 articles.
1. Ahmad M, Abbas H, Haque S, Flatz G. X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred. Hum Genet. 75:169-173 (1987).
2. Aziz A, Irfanullah, Khan S, Zimri FK, Muhammad N, et al: Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. Gene 534:265-271 (2014).
3. Berdón-Zapata V, Granillo-Alvarez M, Valdés-Flores M, García-Ortiz JE, Kofman-Alfaro S, Zenteno JC: p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly. J Orthop Res 22:1-5 (2004).
4. Blattner A, Huber AR, Röthlisberger B: Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. Am J Med Genet A 152A:2053-2056 (2010).
5. Boles RG, Pober BR, Gibson LH, Willis CR, McGrath J, et al: Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review. Am J Med Genet 55:155-160 (1995).
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