Case Report: Novel pathogenic variant in <i>NFIX</i> in two sisters with Malan syndrome due to germline mosaicism.

Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism.

Langley, Elizabeth; Farach, Laura S; Mowrey, Kate.

Afiliação

Langley E; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, United States.
Farach LS; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, United States.
Mowrey K; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, United States.

Front Genet ; 13: 1044660, 2022.

Article em En | MEDLINE | ID: mdl-36437934