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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
Author(s) -
Bruel A.L.,
MasurelPaulet A.,
Rivière J.B.,
Duffourd Y.,
Lehalle D.,
Bensignor C.,
Huet F.,
Borg J.,
Roucher F.,
Kuentz P.,
Deleuze J.F.,
ThauvinRobinet C.,
Faivre L.,
Theve J.
Publication year - 2017
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/cge.12794
Subject(s) - haploinsufficiency , frameshift mutation , agenesis , medicine , scrotum , hypoplasia , exome sequencing , exon , genetics , anatomy , mutation , pathology , biology , gene , phenotype
Description of a boy from consanguineous family, with scrotal agenesis and Dandy‐Walker malformation.