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Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2
Author(s) -
Jepsen Wayne M.,
Ramsey Keri,
Szelinger Szabolcs,
Llaci Lorida,
Balak Chris,
Belnap Newell,
Bilagody Cherae,
De Both Matthew,
Gupta Raj,
Naymik Marcus,
Pandey Richa,
Piras Ignazio S.,
SanchezCastillo Meredith,
Rangasamy Sampathkumar,
Narayanan Vinodh,
Huentelman Matthew J.
Publication year - 2019
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.13580
Subject(s) - phenotype , genetics , mutation , atrophy , spinal muscular atrophy , medicine , biology , gene