Limb/pelvis/uterus-hypoplasia/aplasia syndrome

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

Clinical and experimental rheumatology·2005

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

Clinical genetics·2005

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

Molecular genetics and metabolism·2004

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.

Clinical genetics·2004

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.

Acta paediatrica (Oslo, Norway : 1992)·2003

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

Clinical genetics·2002

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Beyond the Rash: Simultaneous Bilateral Facial Nerve Palsy Following Childhood Varicella Infection.

Clinical case reports·2026

Successful treatment of refractory classic juvenile pityriasis rubra pilaris with adalimumab in a 4-year-old girl: a case report.

Frontiers in immunology·2026

Retrospective Analysis of Paenibacillus urinalis Cultures Primarily Obtained from Sterile Sites in a Pediatric Population from Turkey.

Microorganisms·2026

A Clinical Genetics-Driven Dual Diagnosis of Prader-Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL.

Genes·2026

Never Say Never: Presumed Inherited Factor VII Deficiency Lies in Wait for 17 Years.

Cureus·2026

Simultaneous Bilateral Tibial Tubercle Avulsion Fractures Complicated by Compartment Syndrome in an Adolescent With Osteogenesis Imperfecta: A Case Report.

Case reports in orthopedics·2026

Related Experiment Videos

Limb/pelvis/uterus-hypoplasia/aplasia syndrome

Related Concept Videos

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Beyond the Rash: Simultaneous Bilateral Facial Nerve Palsy Following Childhood Varicella Infection.

Successful treatment of refractory classic juvenile pityriasis rubra pilaris with adalimumab in a 4-year-old girl: a case report.

Retrospective Analysis of Paenibacillus urinalis Cultures Primarily Obtained from Sterile Sites in a Pediatric Population from Turkey.

A Clinical Genetics-Driven Dual Diagnosis of Prader-Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL.

Never Say Never: Presumed Inherited Factor VII Deficiency Lies in Wait for 17 Years.

Simultaneous Bilateral Tibial Tubercle Avulsion Fractures Complicated by Compartment Syndrome in an Adolescent With Osteogenesis Imperfecta: A Case Report.

Related Experiment Videos

Limb/pelvis/uterus-hypoplasia/aplasia syndrome

Related Concept Videos

Related Articles