G234(P) Nephrogenic diabetes insipidus in a female infant
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DOI: 10.1136/archdischild-2019-rcpch.228
Abstract: Aim Nephrogenic Diabetes Insipidus (NDI) is rare. 90% of cases are due to a defect in the AVPR2 gene which is widely believed to be inherited in an X-linked recessive pattern; from asymptomatic carrier mothers,… read more here.
Keywords: avpr2 gene; g234 nephrogenic; linked recessive; nephrogenic diabetes ... See more keywords
A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation
Sign Up to like & getrecommendations! Published in 2022 at "BioMed Research International"
DOI: 10.1155/2022/7073158
Abstract: Background To identify novel clinical phenotypic signatures of congenital nephrogenic diabetes insipidus (CNDI). Methods A Chinese family with CNDI was recruited for participation in this study. The proband and one of his uncles suffered from… read more here.
Keywords: family; chromosome inactivation; avpr2 gene; mutation ... See more keywords