Associated Papers
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome.
Mégarbané A et al.
American Journal of Medical Genetics. Part A, 2011
Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.
Blahakova I et al.
Journal of Inherited Metabolic Disease, 2007
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
Matsumoto Y et al.
Journal of Human Genetics, 2005
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