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Hutchinson‐Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance
Author(s) -
Khalifa M. M.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb02917.x
Subject(s) - progeria , autosomal recessive inheritance , proband , inheritance (genetic algorithm) , genetics , medicine , biology , mutation , gene
A Libyan family with the Hutchinson‐Gilford progeria syndrome affecting three children of two sisters is described. The proband was ascertained because of repeated unhealing fractures. The pattern of inheritance appeared autosomal recessive.