Costello or facio-cutaneous-skeletal 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

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

Proper Management for Massive Penetrating Chest Trauma Narrowly Missing Major Organs: A Case Report.

Case reports in surgery·2026

[Fat grafting for frontotemporal contour restoration after neurosurgery].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko·2026

Comparing visual outcomes in matched patients receiving a low cylinder power toric IOL or a non-toric IOL.

Frontiers in ophthalmology·2026

Feasibility of Minimally Invasive Scoliosis Surgery in Adolescent Idiopathic Scoliosis Exceeding 80° of Curve Magnitude.

Neurospine·2026

Three-dimensional simulations for planning fenestrated/branched endografts in endovascular aneurysm repair for complex abdominal aortic aneurysm: a retrospective cohort study.

Therapeutic advances in cardiovascular disease·2026

Cardiac Computed Tomography Evaluation of Tetralogy of Fallot with Absent Pulmonary Valve Spectrum and Aneurysmal Pulmonary Artery Dilatation Causing Airway Compression.

Annals of African medicine·2026

Related Experiment Videos

Costello or facio-cutaneous-skeletal 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).

Defects of blastogenesis.

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Limb anomalies: Developmental and evolutionary aspects.

Molecular etiology of gut malformations and diseases.

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Three cases of tetrasomy 9p.

Proper Management for Massive Penetrating Chest Trauma Narrowly Missing Major Organs: A Case Report.

[Fat grafting for frontotemporal contour restoration after neurosurgery].

Comparing visual outcomes in matched patients receiving a low cylinder power toric IOL or a non-toric IOL.

Feasibility of Minimally Invasive Scoliosis Surgery in Adolescent Idiopathic Scoliosis Exceeding 80° of Curve Magnitude.

Three-dimensional simulations for planning fenestrated/branched endografts in endovascular aneurysm repair for complex abdominal aortic aneurysm: a retrospective cohort study.

Cardiac Computed Tomography Evaluation of Tetralogy of Fallot with Absent Pulmonary Valve Spectrum and Aneurysmal Pulmonary Artery Dilatation Causing Airway Compression.

Related Experiment Videos

Costello or facio-cutaneous-skeletal syndrome?

Related Concept Videos

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