Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X-linked syndrome?
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32816/fullpdf
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3. Screening of TCOF1 in patients from different populations: Confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle;Splendore;J Med Genet,2002
4. TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature;Splendore;Hum Mutat,2005
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2. AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes;Frontiers in Pediatrics;2023-08-17
3. Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review;American Journal of Medical Genetics Part A;2023-06-07
4. A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report;Molecular Case Studies;2022-06
5. A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report;BMC Medical Genetics;2020-09-17
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