Frontometaphyseal Dysplasia Latest Advances
Find the Latest Research About Frontometaphyseal Dysplasia
Last Updated: 02/24/2026
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Found 87 publications
Perioperative management of cochlear implantation and analysis on the influencing factors of efficacy in patients diagnosed as hereditary syndromic hearing loss
Journal: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
Published: February 26, 2025
Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.
Journal: American journal of medical genetics. Part A
Published: March 10, 2024
A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting.
Journal: Clinical genetics
Published: July 30, 2022
Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1.
Journal: Advances in experimental medicine and biology
Published: January 13, 2022
Frontometaphyseal dysplasia 2 associated with thoracic deformity, and pulmonary arterial hypertension: a case report and review of literature.
Journal: Archivos argentinos de pediatria
Published: November 29, 2021
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Journal: Human mutation
Published: November 07, 2021
Exploration of cochlear implant in frontometaphyseal dysplasia 2 patient with MAP3K7 gene mutation: a case report
Journal: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
Published: October 20, 2021
Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.
Journal: The Journal of craniofacial surgery
Published: June 29, 2021
A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.
Journal: Human genome variation
Published: May 20, 2021
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
Journal: American journal of medical genetics. Part A
Published: April 29, 2021
Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: April 09, 2021
Last Updated: 02/24/2026