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Article

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.

Clinical dysmorphology - 1 Apr 2014

Czeschik Johanna Christina, Albrecht Beate, Kayserili Hülya, Kuechler Alma, Wagner Nicholas, Wieczorek Dagmar, Lüdecke Hermann-Josef

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Identifiers

PMID: 24561647
DOI: 10.1097/MCD.0000000000000035

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Related research

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Research trail→

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A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.PMID 24561647Read ↗

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

A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype.Semantic proximity Read ↗

Rubinstein-Taybi syndrome in first cousins with different de novo mutations.Semantic proximity Read ↗

A case of de novo mosaic 18q21.3 deletion with a mild phenotype.Semantic proximity Read ↗

Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.Semantic proximity Read ↗

A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation.Semantic proximity Read ↗

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoireSemantic proximity Read ↗

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

Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome.Semantic proximity Read ↗

A patient with a duplication of chromosome 3p (p24.1p26.2): a comparison with other partial 3p trisomies.Semantic proximity Read ↗

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndromeSemantic proximity Read ↗

9p13.1p13.3 interstitial deletion: A case report and further delineation of a rare condition.Semantic proximity Read ↗

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