Ene-choo C. Tan

Singapore, 229899, Singapore

Last Updated: 09/26/2026

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Found 61 publications

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in FOXL2: diagnostic challenges with NGS.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in FOXL2: diagnostic challenges with NGS.

Journal: BMJ case reports

Published: August 26, 2025

A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions.

A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions.

Journal: International journal of molecular sciences

Published: April 02, 2025

A Novel GATAD2B Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with Camptodactyly.

A Novel GATAD2B Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with Camptodactyly.

Journal: Molecular syndromology

Published: August 30, 2024

Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.

Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.

Journal: Clinical dysmorphology

Published: March 05, 2024

Epidermolytic epidermal nevus on the genitalia caused by a mosaic KRT10 mutation.

Epidermolytic epidermal nevus on the genitalia caused by a mosaic KRT10 mutation.

Journal: International journal of dermatology

Published: January 02, 2024

Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.

Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.

Journal: The Australasian journal of dermatology

Published: November 15, 2022

Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa.

Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa.

Journal: The Australasian journal of dermatology

Published: May 18, 2022

Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.

Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.

Journal: Molecular syndromology

Published: February 09, 2022

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.

Journal: Molecular genetics & genomic medicine

Published: October 22, 2021

Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype.

Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype.

Journal: F1000Research

Published: June 23, 2021

Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.

Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.

Journal: American journal of medical genetics. Part A

Published: May 31, 2021

Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases.

Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases.

Journal: American journal of medical genetics. Part A

Published: March 10, 2021

Showing 1-12 of 61

Last Updated: 09/26/2026