A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome

by Leandro Ucela Alves, Eliete Pardono, Paulo A. Otto, Regina Célia Mingroni Netto
Published 2015-03-01

A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family

by Amjad Khan, Amjad Khan, Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Mohammad A. Alshabeeb, Muhammad Ansar, Wasim Ahmad, Manal Alaamery, Xue Zhang, Xue Zhang
Published 2020-01-01

Identification of Critical Region Responsible for Split Hand/Foot Malformation Type 3 (SHFM3) Phenotype through Systematic Review of Literature and Mapping of Breakpoints Using Mic...

by Catherine F. Li, Katie Angione, Jeff M. Milunsky
Published 2015-12-01