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Mowat-Wilson syndrome in a Chinese population: A case series.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jun; Vol. 182 (6), pp. 1336-1341. Date of Electronic Publication: 2020 Mar 20. - Publication Year :
- 2020
-
Abstract
- Mowat-Wilson syndrome (MWS) is characterized clinically by a distinctive facial gestalt, intellectual disability, microcephaly, epilepsy, and nonobligatory congenital malformations such as Hirschsprung disease, urogenital anomalies, congenital heart disease, eye malformations. This article summarized the clinical features and molecular findings of 15 Chinese MWS patients. The results revealed a higher incidence of congenital heart disease in Chinese MWS patients compared to that previously reported in Caucasian cohorts, while the incidence of Hirschsprung disease and genitourinary malformation appeared to be lower. This suggests possible ethnicity-related modifying effects in the MWS phenotype.<br /> (© 2020 Wiley Periodicals, Inc.)
- Subjects :
- Adolescent
Adult
Child
Child, Preschool
China epidemiology
Facies
Female
Heart Defects, Congenital complications
Heart Defects, Congenital pathology
Hirschsprung Disease complications
Hirschsprung Disease pathology
Humans
Intellectual Disability complications
Intellectual Disability pathology
Male
Microcephaly complications
Microcephaly pathology
Repressor Proteins
Urogenital Neoplasms complications
Urogenital Neoplasms genetics
Urogenital Neoplasms pathology
Young Adult
Heart Defects, Congenital genetics
Hirschsprung Disease genetics
Intellectual Disability genetics
Microcephaly genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 182
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 32196960
- Full Text :
- https://doi.org/10.1002/ajmg.a.61557