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The Pedigrees and the Phenotype of Family 3
(A) The pedigrees investigated in this study. In family 3, XCI patterns show the silencing of the X chromosome that carries the mutant allele.
(B) The hands of 3I:2.
(C) Multiple frenula of 3II:4.
(D) The right hand of 3II:4. She has clinodactyly and digital fibroma.
(E) The right axillary pterygium of 3II:5.
(F) The right hand of 3II:5.
