<scp>PERCHING</scp> syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing-Reference-Cited by-同舟云学术

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

Published:2022-06-07 Issue:9 Volume:188 Page:2825-2831
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Makay Prince¹²³^ORCID,Mubungu Gerrye¹²³^ORCID,Mupuala Aimée²,Bluske Krista⁴,Brown Carolyn⁴,Schmidt Sarah A.⁴,Ngole Mamy¹,Fuanani Patrick¹²,Perry Denise L.⁴,Lukusa Prosper¹²³,Devriendt Koenraad³,Taft Ryan J.⁴,Lumaka Aimé¹²⁵^ORCID

Affiliation:

1. Centre for Human Genetics, Faculty of Medicine University of Kinshasa Kinshasa Democratic Republic of the Congo

2. Department of Pediatrics, Faculty of Medicine University of Kinshasa Kinshasa Democratic Republic of the Congo

3. Centre for Human Genetics University Hospital, University of Leuven Leuven Belgium

4. Illumina Inc San Diego California USA

5. Laboratoire de Génétique Humaine GIGA‐Research Institute, University of Liège Liège Belgium

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62855

Reference9 articles.

1. Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

2. Expanding the clinical spectrum of recessive truncating mutations ofKLHL7to a Bohring-Opitz-like phenotype

3. A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features

4. New macular findings in individuals with biallelic KLHL7 gene mutation

5. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases