Rubinstein Taybi syndrome causes, symptoms, diagnosis, treatment & prognosis
Por um escritor misterioso
Last updated 28 setembro 2024
Rubinstein Taybi syndrome Rubinstein-Taybi syndrome also called broad thumb-hallux syndrome, is rare genetic disorder characterized by broad thumbs and toes, short stature, distinctive facial features, and moderate to severe intellectual disability
Genes, Free Full-Text
Genes, Free Full-Text
Rubinstein‐Taybi syndrome in Chinese population with four novel
Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment
Rubinstein-Taybi syndrome: MedlinePlus Genetics
IJMS, Free Full-Text
Divergent variant patterns among 19 patients with Rubinstein‐Taybi
Keloids: An unwanted spontaneity in Rubinstein-Taybi Syndrome
PDF) Rubinstein-Taybi syndrome: Dental manifestations and management
The natural history of adults with Rubinstein-Taybi syndrome: a
Dermatologic Manifestations of Rubinstein-Taybi Syndrome
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein
Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3
Exon deletions of the EP300 and CREBBP genes in two children with
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP
Recomendado para você
-
Genes, Free Full-Text28 setembro 2024
-
Figure 2. [Broad terminal phalanges (A) and broad, radially deviated thumbs (B)]. - GeneReviews® - NCBI Bookshelf28 setembro 2024
-
Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf28 setembro 2024
-
A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part28 setembro 2024
-
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library28 setembro 2024
-
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients - ScienceDirect28 setembro 2024
-
Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect28 setembro 2024
-
Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf28 setembro 2024
-
Identification of de novo EP300 and PLAU variants in a patient28 setembro 2024
-
SciELO - Brasil - Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report28 setembro 2024
você pode gostar
-
Stairway to Heaven Photography Backdrop28 setembro 2024
-
Assistir Nanatsu no Maken ga Shihai suru - Todos os Episódios28 setembro 2024
-
two person play? - Chess Forums28 setembro 2024
-
Smash Karts - New Christmas Update !28 setembro 2024
-
Minecraft 1.20.41.02 Mod APK (Desbloqueado)28 setembro 2024
-
Kanojo mo Kanojo Episode 5 Preview 【A Third Girlfriend?!】28 setembro 2024
-
Alan Rickman, star of stage and 'Harry Potter' dies at 6928 setembro 2024
-
Original Xbox and Xbox 360 games arrive on Microsoft's xCloud28 setembro 2024
-
Epic Games Connection Error: Reasons & How To Fix28 setembro 2024
-
Thai FA apologizes for SEA Games final brawls - The Japan Times28 setembro 2024