research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
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5 / 1000+ resultsresearch A Clinical Genetics-Driven Dual Diagnosis of Prader–Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL
In this case study, mosaic maternal uniparental disomy of chromosome 15 was identified as the cause of Prader–Willi syndrome in a patient through combined genetic analyses, emphasizing that mosaicism might lead to missed diagnoses if only blood tests are used.
research Adrenal causes of endocrine hypertension in childhood or adolescence
This review identifies and discusses various endocrine-related causes of hypertension in children and adolescents, emphasizing the role of genetic predispositions and highlighting the need for systematic diagnostic guidelines and genetic sequencing referrals to improve diagnosis and treatment strategies.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
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