A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference10 articles.
1. Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome
2. Neck web and congenital heart defects: A pathogenic association in 45 X-O Turner syndrome?
3. Pterygium syndrome.
4. The lethal multiple pterygium syndromes
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2. Lethal multiple pterygium syndrome in a newborn, a case report;Clinical Case Reports;2023-07
3. Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene;Frontiers in Genetics;2023-01-17
4. Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report;Frontiers in Genetics;2022-08-26
5. Cardiac anomalies associated with Escobar syndrome;Medicine;2021-07-30
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