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UnknownMPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
Not available
S-EPMC200989 | biostudies-literature
Genomics
Gene Identifiaction of rare phenotypes
PRJNA439181 | ENA
Unknownp63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
Not available
S-EPMC1235479 | biostudies-literature
UnknownHaploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Not available
S-EPMC10940049 | biostudies-literature
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