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Article

PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.

American journal of medical genetics. Part A - 1 Sept 2022

Makay Prince, Mubungu Gerrye, Mupuala Aimée, Bluske Krista, Brown Carolyn, Schmidt Sarah A, Ngole Mamy, Fuanani Patrick, Perry Denise L, Lukusa Prosper, Devriendt Koenraad, Taft Ryan J, Lumaka Aimé

Abstract excerpt

PERCHING syndrome is a rare multisystem developmental disorder caused by autosomal recessive (AR) variants (truncating and missense) in the Kelch-like family member 7 gene (KLHL7). We report the first phenotypic and molecular description of PERCHING syndrome in a patient from Central Africa. The patient presented multiple dysmorphic features in addition to neurological, respiratory, gastroenteric, and...

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PMID: 35670385
DOI: 10.1002/ajmg.a.62855

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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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