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Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.

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Bibliographic Details
Title:	Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.
Authors:	Mariano D; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy., Petrone V; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy., Madia F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Basso L; Radiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Capra V; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Vari MS; Pediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Marras A; Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Tantari G; Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., d'Annunzio G; Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Source:	Children (Basel, Switzerland) [Children (Basel)] 2026 Apr 27; Vol. 13 (5). Date of Electronic Publication: 2026 Apr 27.
Publication Type:	Case Reports; Journal Article
Journal Info:	Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101648936 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9067 (Print) Linking ISSN: 22279067 NLM ISO Abbreviation: Children (Basel) Subsets: PubMed not MEDLINE
Database:	MEDLINE Ultimate

Description
ISSN:	2227-9067
DOI:	10.3390/children13050599