Craniofrontonasal Dysplasia Latest Advances

Clinical and genetic analysis of a patient with Craniofrontonasal syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: May 22, 2023

No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B.

Journal: Clinical case reports

Published: March 05, 2023

Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are EFNB1 Variants Associated with Autoimmunity?

Journal: Pharmaceuticals (Basel, Switzerland)

Published: November 19, 2022

Craniomaxillofacial morphology in a murine model of ephrinB1 conditional deletion in osteoprogenitor cells.

Journal: Archives of oral biology

Published: January 12, 2022

Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

Journal: Frontiers in pediatrics

Published: September 08, 2021

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.

Journal: Orphanet journal of rare diseases

Published: April 25, 2021

Intracranial Volume Measured and Correlated to Cephalic Index in Syndromic and Nonsyndromic Anterior Brachycephaly.

Journal: Annals of plastic surgery

Published: February 15, 2021

Craniofrontonasal dysplasia: hypertelorism correction in late presenting patients.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: January 10, 2021

Strategy for Bone Conservation in the Two-Stage Correction of Hypertelorism in Craniofrontonasal Dysplasia.

Journal: The Journal of craniofacial surgery

Published: August 25, 2020