Clinical and genetic heterogeneity of Seckel syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical)
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1. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
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1. Expanding the phenotype of Seckel syndrome associated with biallelic loss‐of‐function variants in CEP63;American Journal of Medical Genetics Part A;2023-04-05
2. Central precocious puberty with hypothalamic hamartoma; the first case reports of two siblings with different phenotypes in Seckel syndrome 5;Annals of Pediatric Endocrinology & Metabolism;2022-06-30
3. A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3;Clinical Genetics;2022-05-05
4. DNA Replication proteins in primary microcephaly syndromes;Biology of the Cell;2022-03-25
5. Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature;Cardiology in the Young;2021-08-13
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