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Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli
Author(s) -
Beighton Peter
Publication year - 1974
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.1399-0004.1974.tb01707.x
Subject(s) - dwarfism , consanguinity , autosomal recessive inheritance , inheritance (genetic algorithm) , genetics , biology , gene
Five sisters in a Cape Town kindred had the mesomelic dwarfism of Campailla and Martinelli. The consanguinity of their unaffected parents provides evidence to indicate that this entity is inherited as an autosomal recessive.