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Extreme phenotypic variability of a novel GLI 2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications
Author(s) -
Kremer Hovinga Idske C.L.,
Giltay Jacques C.,
Crabben Saskia N.,
Steyls Anja,
Kamp Hetty J.,
Paulussen Aimee D.C.
Publication year - 2018
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.13760
Subject(s) - medical genetics , university hospital , polydactyly , biochemistry , medicine , pediatrics , family medicine , genetics , biology , anatomy , gene
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