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Article

The Infant and Toddler Developmental Profile of Kleefstra Syndrome.

American journal of medical genetics. Part A - 1 Jun 2026

Yue Shanna L, Pillai Rajapillai L I, Frazier Zoë, Osika Hailey, Quinn Meg, O'Toole Jillian, Heslin Brynn, Zhang Bo, Dies Kira A, Pais Lynn, O'Donnell-Luria Anne, Horlbeck Max A, Kossowsky Joe, Lipton Jonathan, Srivastava Siddharth

Abstract excerpt

The early developmental profile of Kleefstra syndrome remains undercharacterized. To address this gap, this study investigated a large clinical cohort of patients with Kleefstra syndrome, characterizing age of achievement of infant/toddler developmental milestones and quantifying language and visual motor developmental quotients (DQs) using the Capute Scales developmental screening tool. We conducted a...

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Identifiers

PMID: 41652658
DOI: 10.1002/ajmga.70071

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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