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A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood.

Clinical endocrinology - 1 Sept 2015

Tornese Gianluca, Marzuillo Pierluigi, Pellegrin Maria Chiara, Germani Claudio, Faleschini Elena, Zennaro Floriana, Grandone Anna, Miraglia del Giudice Emanuele, Perrone Laura, Ventura Alessandro

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PMID: 25683362
DOI: 10.1111/cen.12748

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A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood.PMID 25683362Read ↗

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Adults with Rubinstein-Taybi syndrome.Semantic proximity Read ↗

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A case report on Rubinsein-Taybi syndrome associated with a de novo CREBBP gene mutation.Semantic proximity Read ↗

Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.Semantic proximity Read ↗

Review and hypothesis: syndromes with severe intrauterine growth restriction and very short stature--are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease?Semantic proximity Read ↗

Monozygotic twins concordant for Rubinstein-Taybi syndrome and implications for genetic counseling.Semantic proximity Read ↗

An unusual case of growth hormone receptor deficiency syndrome.Semantic proximity Read ↗

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