Osteogenesis imperfecta or osteoporosis-pseudoglioma syndrome

Sudden unexpected death in young adults with chronic hydrocephalus.

International journal of legal medicine·2001

[Osteoma cutis, a case report from the orthopedic viewpoint].

Zeitschrift fur Orthopadie und ihre Grenzgebiete·1999

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

Journal of medical genetics·1996

The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients.

American journal of medical genetics·1996

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.

American journal of medical genetics·1996

Clinical and ultrastructural findings in three patients with geleophysic dysplasia.

American journal of medical genetics·1996

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Clinical genetics·2026

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Clinical genetics·2026

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

Clinical genetics·2026

The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy.

Clinical genetics·2026

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Clinical genetics·2026

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Clinical genetics·2026

Middle Interhemispheric Variant of Holoprosencephaly With Septo-Optic Dysplasia: A Rare Association.

Cureus·2026

Vitrectomy with Low-Dose Subretinal t-PA for Hemorrhage Due to Traumatic Choroidal Rupture: A Case Series.

International medical case reports journal·2026

Persistent apogeotropic positional nystagmus of the lateral semicircular canal: clinical features and association with vestibular atelectasis on delayed 3D-FLAIR MRI.

Frontiers in neurology·2026

Evaluation of research productivity among academic neuro-ophthalmologists using the relative citation ratio.

Frontiers in ophthalmology·2026

An Occult Intraocular Eyelash Masquerading as Chronic Recurrent Uveitis: A Case Report.

Case reports in ophthalmology·2026

Beyond prevalence: diagnostic heterogeneity in population-based glaucoma studies in Africa-a systematic review.

Frontiers in medicine·2026

Related Experiment Videos

Osteogenesis imperfecta or osteoporosis-pseudoglioma syndrome

Related Concept Videos

Sudden unexpected death in young adults with chronic hydrocephalus.

[Osteoma cutis, a case report from the orthopedic viewpoint].

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients.

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.

Clinical and ultrastructural findings in three patients with geleophysic dysplasia.

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy.

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Middle Interhemispheric Variant of Holoprosencephaly With Septo-Optic Dysplasia: A Rare Association.

Vitrectomy with Low-Dose Subretinal t-PA for Hemorrhage Due to Traumatic Choroidal Rupture: A Case Series.

Persistent apogeotropic positional nystagmus of the lateral semicircular canal: clinical features and association with vestibular atelectasis on delayed 3D-FLAIR MRI.

Evaluation of research productivity among academic neuro-ophthalmologists using the relative citation ratio.

An Occult Intraocular Eyelash Masquerading as Chronic Recurrent Uveitis: A Case Report.

Beyond prevalence: diagnostic heterogeneity in population-based glaucoma studies in Africa-a systematic review.

Related Experiment Videos

Osteogenesis imperfecta or osteoporosis-pseudoglioma syndrome

Related Concept Videos

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