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Pediatric Dermatology|June 2, 2021
CARD14-associated papulosquamous eruption (CAPE) in a toddler responding to treatment with acitretinGabriel Hong Zhe Wong, Shi Yun Chia, Heming Wei, et al.
BMJ Case Reports|August 26, 2025
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in FOXL2: diagnostic challenges with NGSHarshini Hariram, Khadijah Rafi'ee, Jiin Ying Lim, et al.
Molecular Syndromology|May 15, 2025
A Novel GATAD2B Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with CamptodactylyCheryl Weiqi Tan, Jiin Ying Lim, Khadijah Rafi'ee, et al.
The Australasian Journal of Dermatology|July 15, 2023
Phenotype and genotype correlation of inherited epidermolysis bullosa in IndonesiaInne Arline Diana, Ene-Choo Tan, Srie Prihianti Gondokaryono, et al.
American Journal of Medical Genetics. Part A|December 18, 2019
Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from CambodiaHeming Wei, Lynette W Y Wee, Bori Born, et al.
Molecular Genetics & Genomic Medicine|December 27, 2021
A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvementEne-Choo Tan, Shi Yun Chia, Khadijah Rafi'ee, et al.
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