Robinow syndrome: Phenotypic variability in a family with a novel intragenic 
ROR2 mutation

Brunetti-Pierri, Nicola; del Gaudio, Daniela; Peters, Hartmut; Justino, Henri; Ott, Claus-Eric; Mundlos, Stefan; Bacino, Carlos A.

doi:10.1002/ajmg.a.32530

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Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation

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Mundlos, Stefan
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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引用

Brunetti-Pierri, N., del Gaudio, D., Peters, H., Justino, H., Ott, C.-E., Mundlos, S., & Bacino, C. A. (2008). Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation. American Journal of Medical Genetics Part A, 146A(21), 2804-2809. doi:10.1002/ajmg.a.32530.

引用: https://hdl.handle.net/11858/00-001M-0000-0010-7EE7-5

要旨

Robinow syndrome comprises dysmorphic facial features, short stature, brachymesomelia, segmental spine defects, and genital hypoplasia. The range of severity in this disorder is broad. We report on the clinical and molecular findings of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic ROR2 deletion involving exons 6 and 7 that could not be detected by sequencing. The affected individuals exhibited variability with respect to the cleft lip, cleft palate, and cardiac findings and for the presence in one of the patients of syringomyelia, which has not been previously reported in Robinow syndrome