Llwytho...

Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1–58 deletion: a case report

Abstract Background Neurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1–58 of the NF1 gene on chromosome 17 in a 15-month-old boy. Case presentation A 15-month-old boy was admitted for motor a...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Zhen Zhang, Xin Chen, Rui Zhou, Huaixiang Yin, Jiali Xu
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMC 2020-05-01
Cyfres:BMC Pediatrics
Pynciau:
Mynediad Ar-lein:http://link.springer.com/article/10.1186/s12887-020-02102-z
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!