X-linked VACTERL-H caused by deletion of exon 3 in FANCB: A case report

Congenit Anom (Kyoto). 2018 Sep;58(5):171-172. doi: 10.1111/cga.12262. Epub 2017 Dec 28.

Authors

Norikazu Watanabe¹, Seiji Tsutsumi¹, Yuki Miyano², Hidenori Sato², Satoru Nagase¹

Affiliations

¹ Department of Obstetrics and Gynecology, Yamagata University Faculty of Medicine, Yamagata, Japan.
² Genome Informatics Unit, Institute for Promotion of Medical Science Research, Yamagata University Faculty of Medicine, Yamagata, Japan.

PMID: 29232005
DOI: 10.1111/cga.12262

No abstract available

Publication types

Case Reports

MeSH terms

Base Sequence*
Cardiovascular Abnormalities / diagnosis
Cardiovascular Abnormalities / genetics*
Cardiovascular Abnormalities / pathology
Digestive System Abnormalities / diagnosis
Digestive System Abnormalities / genetics*
Digestive System Abnormalities / pathology
Exons
Fanconi Anemia Complementation Group Proteins / genetics*
Female
Gene Library
Genetic Diseases, X-Linked / diagnosis
Genetic Diseases, X-Linked / genetics*
Genetic Diseases, X-Linked / pathology
Humans
Hydrocephalus / congenital
Hydrocephalus / diagnosis
Hydrocephalus / genetics*
Hydrocephalus / pathology
Infant
Infant Death
Infant, Newborn
Male
Musculoskeletal Abnormalities / diagnosis
Musculoskeletal Abnormalities / genetics*
Musculoskeletal Abnormalities / pathology
Pregnancy
Sequence Deletion*
Whole Genome Sequencing

Substances

FANCB protein, human
Fanconi Anemia Complementation Group Proteins

Supplementary concepts

VACTERL Association With Hydrocephalus