Rubinstein - Taybi syndrome: phenotypic characteristics
Por um escritor misterioso
Last updated 22 dezembro 2024
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein-Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document
PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome
IJMS, Free Full-Text
Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of
DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: - Mental retardation - Broad thumbs
Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Psychiatric Profile in Rubinstein-Taybi Syndrome
Facial features of Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome - an overview
Behavioural Characteristics
Rubinstein - Taybi Syndrome (Rubinstein syndrome, broad thumb-hallux syndrome, broad thumbs and great toes, characteristic facies and mental retardation) - Dermatology Advisor
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