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

Saved in:
Bibliographic Details
Published inCongenital anomalies Vol. 58; no. 5; pp. 171 - 172
Main Authors Watanabe, Norikazu, Tsutsumi, Seiji, Miyano, Yuki, Sato, Hidenori, Nagase, Satoru
Format Journal Article
LanguageEnglish
Published Kyoto, Japan John Wiley & Sons Australia, Ltd 01.09.2018
Wiley Subscription Services, Inc
Subjects
Base Sequence
Cardiovascular Abnormalities - diagnosis
Cardiovascular Abnormalities - genetics
Cardiovascular Abnormalities - pathology
Case reports
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
Online AccessGet full text

Cover

More Information
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0914-3505
1741-4520
DOI:10.1111/cga.12262