Kyphomelic Dysplasia Latest Advances

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.

Journal: Prenatal diagnosis

Published: January 18, 2025

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Journal: Journal of medical genetics

Published: September 07, 2024

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.

Journal: Frontiers in endocrinology

Published: March 28, 2023

15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature.

Journal: American journal of medical genetics. Part A

Published: March 10, 2023

Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant.

Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association

Published: November 28, 2022

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.

Journal: Clinical genetics

Published: February 07, 2022

Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.

Journal: European journal of medical genetics

Published: May 06, 2021

The vascular origins of antero-medial tibial bowing in congenital fibular deficiency.

Journal: Anatomical record (Hoboken, N.J. : 2007)

Published: August 07, 2020

Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.

Journal: Molecular medicine reports

Published: July 31, 2020

Posteromedial tibial deformity: Radiological evolution and treatment of the discrepancy.

Journal: Revista espanola de cirugia ortopedica y traumatologia (English ed.)

Published: May 24, 2020

Kyphomelic dysplasia, Pierre Robin Sequence and pregnant.

Journal: International journal of obstetric anesthesia

Published: September 27, 2018

Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia.

Journal: Head and neck pathology

Published: September 19, 2017

Kyphomelic Dysplasia Latest Advances

Find the Latest Research About Kyphomelic Dysplasia

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.

15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature.

15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature.

Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant.

Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant.

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.

Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.

Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.

The vascular origins of antero-medial tibial bowing in congenital fibular deficiency.

The vascular origins of antero-medial tibial bowing in congenital fibular deficiency.

Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.

Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.

Posteromedial tibial deformity: Radiological evolution and treatment of the discrepancy.

Posteromedial tibial deformity: Radiological evolution and treatment of the discrepancy.

Kyphomelic dysplasia, Pierre Robin Sequence and pregnant.

Kyphomelic dysplasia, Pierre Robin Sequence and pregnant.

Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia.

Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia.