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- Title
VP16.01: Lethal multiple pterygium syndrome: a severe phenotype associated with a novel variant in the CHRNA‐1 gene.
- Authors
Albayrak, M.; Guven, S.
- Abstract
In conclusions, this report presents further evidence that a novel mutation in the outosomal recessive CHRNA-1 gene plays a role in the etiology of LMPS. Lethal multiple pterygium syndrome (LMPS) is a very rare genetic syndrome affecting the skin and musculoskeletal system. VP16.01: Lethal multiple pterygium syndrome: a severe phenotype associated with a novel variant in the CHRNA-1 gene.
- Subjects
GENETIC variation; PHENOTYPES; PTERYGIUM; SYNDROMES; FETAL growth retardation
- Publication
Ultrasound in Obstetrics & Gynecology, 2021, Vol 58, p163
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1002/uog.24269