4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
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Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric #Genetics # syndrome / X
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Rubinstein-Taybi Syndrome
Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3‐Dimensional Ultrasonography - Cardalliac - 2018 - Journal of Ultrasound in Medicine - Wiley Online Library
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
Hyperinsulinism in an individual with an EP300 variant of Rubinstein‐Taybi syndrome - Wild - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome - Bartsch - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect. - Abstract - Europe PMC
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