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Issue Information
Publication year - 2021
Publication title -
congenital anomalies
Language(s) - English
Resource type - Reports
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12379
Subject(s) - inheritance (genetic algorithm) , pes cavus , genetics , phenotype , biology , anatomy , medicine , gene , surgery , complication
A Pakistani family with Ehlers–Danlos musculocontractural type 2 disease. (a) Pedigree showing autosomal recessive mode of inheritance for the disease phenotype (b) Protein models with wild and mutated amino acids. (c) (A–E) Distinctive facial features; (F–H) Hands and fingers; (KO) Long toes and bilateral pes cavus feet. Further details can be seen in the article by Ullah et al. in this issue.