Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
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1. TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature;Annual Review of Genomics and Human Genetics;2023-08-25
2. Displasia frontometafisaria 2 asociada con deformidad torácica e hipertensión arterial pulmonar: a propósito de un caso y revisión bibliográfica;Archivos Argentinos de Pediatria;2022-12-01
3. Frontometaphyseal dysplasia 2 associated with thoracic deformity, and pulmonary arterial hypertension: a case report and review of literature;Archivos Argentinos de Pediatria;2022-12-01
4. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations;Human Mutation;2022-07-29
5. Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7;American Journal of Medical Genetics Part A;2021-09-24
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