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Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations
Author(s) -
Kouwenberg Dorus,
Gardeitchik Thatjana,
Wevers Ron A,
Häberle Johannes,
Morava Eva
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34154
Subject(s) - microcephaly , medical genetics , medicine , cutis laxa , pediatrics , psychomotor retardation , human genetics , genetics , biology , pathology , alternative medicine , gene