XY sex-reversed campomelia- possibly an X-linked disorder?

An unusual sellar mass--solitary plasmacytoma.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·2004

Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.

American journal of medical genetics·1999

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei.

Neurology·1995

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

American journal of human genetics·1994

Congenital nonprogressive myopathy with Möbius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report.

American journal of medical genetics·1993

Case report: breast cancer in males--a genetic consideration.

The American journal of the medical sciences·1992

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

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Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

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Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

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Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

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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

Assessment of Serum Survivin Levels as a Potential Biomarker for Disease Severity and Therapeutic Outcome: Results of a Pilot Study.

Indian dermatology online journal·2026

Scleral Rupture during Cryoretinopexy for Symptomatic Retinal Tears: A Case Series.

Journal of current ophthalmology·2026

From solutions to living systems: a colorimetric and "turn-on" chemosensor for Co2+ with paper-strip and bioimaging applications.

RSC advances·2026

Pigmented Contact Dermatitis to Cosmetics: A Prospective Observational Study From a Tertiary Care Hospital.

Cureus·2026

Visible Light-Mediated Photoclick and Thermally Reversible Furanic Dithioacetal Chemistry for Circular 3D Printing.

Angewandte Chemie (International ed. in English)·2026

Dissipative Regenerative Chemiluminescence in Water: A Perylene-Based Out-of-Equilibrium Light-Emitting System.

Angewandte Chemie (International ed. in English)·2026

Related Experiment Videos

XY sex-reversed campomelia- possibly an X-linked disorder?

Related Concept Videos

An unusual sellar mass--solitary plasmacytoma.

Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei.

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

Congenital nonprogressive myopathy with Möbius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report.

Case report: breast cancer in males--a genetic consideration.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

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.

Assessment of Serum Survivin Levels as a Potential Biomarker for Disease Severity and Therapeutic Outcome: Results of a Pilot Study.

Scleral Rupture during Cryoretinopexy for Symptomatic Retinal Tears: A Case Series.

From solutions to living systems: a colorimetric and "turn-on" chemosensor for Co2+ with paper-strip and bioimaging applications.

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Visible Light-Mediated Photoclick and Thermally Reversible Furanic Dithioacetal Chemistry for Circular 3D Printing.

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XY sex-reversed campomelia- possibly an X-linked disorder?

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