Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.
Borisovna KO, Yurievna KA, Yurievich TK, Igorevna KO, Olegovich KD, Igorevna DA, Timofeevna BT, Vyacheslavovna ZN, Ivanovna SE, Alekseevich SP, Vladimirovich IV.
Borisovna KO, et al.
BMC Pediatr. 2019 Apr 8;19(1):98. doi: 10.1186/s12887-019-1470-2.
BMC Pediatr. 2019.
PMID: 30961548
Free PMC article.
Exome sequencing revealed compound heterozygous mutations in POMGNT1 gene (transcript NM_001243766.1): c.1539 + 1G > A and c.385C > T. CONCLUSIONS: The present case report shows diagnostic algorithm step by step and helps better understand the clinical and genetic fe …
Exome sequencing revealed compound heterozygous mutations in POMGNT1 gene (transcript NM_001243766.1): c.1539 + 1G > A and c.385C …