4.2 Article

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

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

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

Sara Cheraghi et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)

Article Genetics & Heredity

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

Lauren Jeffries et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)

Article Ophthalmology

New macular findings in individuals with biallelic KLHL7 gene mutation

Ling Zhi Heng et al.

BMJ OPEN OPHTHALMOLOGY (2019)

Article Genetics & Heredity

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Ange-Line Bruel et al.

JOURNAL OF MEDICAL GENETICS (2017)

Article Genetics & Heredity

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

Andrea Angius et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Medicine, General & Internal

Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting

Aime Lumaka et al.

CLINICAL CASE REPORTS (2016)