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Article

The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.

American journal of human genetics - 1 May 1995

Guay-Woodford L M, Muecher G, Hopkins S D, Avner E D, Germino G G, Guillot A P, Herrin J, Holleman R, Irons D A, Primack W

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is a one of the most common hereditary renal cystic diseases in children. Its clinical spectrum is widely variable with most cases presenting in infancy. Most affected neonates die within the first few hours of life. At present, prenatal diagnosis relies on fetal sonography, which is often imprecise in detecting even the severe form of the disease. Recently,...

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Identifiers

PMID: 7726165
PMCID: PMC1801440

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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