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Article

Early development and adaptive functioning in children with Bardet-Biedl syndrome.

American journal of medical genetics. Part A - 1 Jan 2024

Keifer Ekaterina, Berg Richard L, Richardson Jesse G, Haws Robert M

Abstract excerpt

This study had two aims. Aim one investigated achievement of 10 developmental milestones in children with Bardet-Biedl syndrome (BBS). Aim one data were derived from retrospective responses by caregivers of individuals with BBS who are enrolled in the Clinical Registry Investigating Bardet-Biedl syndrome (CRIBBS). CRIBBS is a natural history registry acquiring serial observations. Aim two investigated early...

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PMID: 37749848
DOI: 10.1002/ajmg.a.63391

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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