4 Newborn with Rubinstein-Taybi syndrome showing microcephaly

Por um escritor misterioso
Last updated 04 março 2025
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Very Small Stature, Not Skeletal Dysplasia
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome. – ScienceOpen
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Microcephaly: Causes, Complications, and Diagnosis
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Forgotten Diseases Research Foundation
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3‐Dimensional Ultrasonography - Cardalliac - 2018 - Journal of Ultrasound in Medicine - Wiley Online Library
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3‐Dimensional Ultrasonography - Cardalliac - 2018 - Journal of Ultrasound in Medicine - Wiley Online Library
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Rubinstein-Taybi Syndrome

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