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Article

Growth charts for individuals with Coffin-Siris syndrome.

American journal of medical genetics. Part A - 1 Oct 2020

McCague Emily A, Lamichhane Rajan, Holt Nicole, Schrier Vergano Samantha A

Abstract excerpt

Coffin-Siris syndrome (CSS; OMIM #135900) is a rare, multisystem syndrome caused by pathogenic variants in genes encoding the BRG-1 associated factors complex (BAF). Individuals with CSS often present with feeding difficulties and failure to thrive during infancy, in addition to a number of variable congenital anomalies. Nutritional interventions are used to support growth in this population, and growth hormone...

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PMID: 32851773
DOI: 10.1002/ajmg.a.61823

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