Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?
about
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.Lessons learned from additional research analyses of unsolved clinical exome cases.De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion.Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.
P2860
Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?
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Craniosynostosis in 10q26 dele ...... ent or altered suture biology?
@en
Craniosynostosis in 10q26 dele ...... ent or altered suture biology?
@nl
type
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Craniosynostosis in 10q26 dele ...... ent or altered suture biology?
@en
Craniosynostosis in 10q26 dele ...... ent or altered suture biology?
@nl
prefLabel
Craniosynostosis in 10q26 dele ...... ent or altered suture biology?
@en
Craniosynostosis in 10q26 dele ...... ent or altered suture biology?
@nl
P2093
P2860
P356
P1476
Craniosynostosis in 10q26 dele ...... ent or altered suture biology?
@en
P2093
Andréia L A de S Thiago Pereira
Carla Rosenberg
Eliete Rabbi-Bortolini
Flávia Imbroisi Valle Errera
Maria R G O Rebouças
Milena G Tonini Frasson
Naila Cristina V Lourenço
Rodrigo Atique
Ágatha Cristhina Faria
P2860
P304
P356
10.1002/AJMG.A.37448
P407
P577
2015-11-14T00:00:00Z