Rubinstein-Taybi Syndrome 1
Por um escritor misterioso
Descrição
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications
Rubinstein-Taybi syndrome-showing distinctive clinical features like
Forgotten Diseases Research Foundation
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal
Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome
Coloboma Associated With Rubinstein-Taybi Syndrome
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Rubinstein-Taybi Syndrome
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Long-term results following osteotomy of the thumb delta phalanx in Rubinstein–Taybi Syndrome - A. Jain, S. Rehman, G. Smith, 2010
de
por adulto (o preço varia de acordo com o tamanho do grupo)
