Condition: Premature birth following premature rupture of fetal membranes
rs779027563
in
CNTNAP1
gene and
Premature birth following premature rupture of fetal membranes
PMID 27668699
2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
rs1034395178
in
LZTR1
gene and
Premature birth following premature rupture of fetal membranes
PMID 29469822
2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
rs587777893
in
MTOR
gene and
Premature birth following premature rupture of fetal membranes
PMID 27159400
2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.