Open AccesseP194: Three generations of females with a heterozygous likely pathogenic variant in SLC6A8 causative of X-linked creatine transporter defect
Author(s) -
Kate Mowrey,
Hope Northrup
Publication year - 2022
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1016/j.gim.2022.01.230
Subject(s) - creatine , hypotonia , epilepsy , medicine , autism spectrum disorder , autism , endocrinology , psychiatry
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