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Article

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.

American journal of medical genetics. Part A - 1 Dec 2021

Strong Alanna, Skraban Cara, Meyers Kevin, Amaral Sandra, Furth Susan, Drant Stacey, Hsiao Wendy, Galea Lauren, Gold Jessica, Gold Nina B, Leonard Jacqueline, Lopez Sonya, Zackai Elaine H, Pyeritz Reed E

Abstract excerpt

Heritable connective tissue disorders are a group of diseases, each rare, characterized by various combinations of skin, joint, musculoskeletal, organ, and vascular involvement. Although kidney abnormalities have been reported in some connective tissue disorders, they are rarely a presenting feature. Here we present three patients with prominent kidney phenotypes who were found by whole exome sequencing to have...

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Source

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Identifiers

PMID: 34355836
DOI: 10.1002/ajmg.a.62449
PMCID: PMC9888756

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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