Proximal focal femoral deficiency (familial)

Cervical spine anomalies and tumors in Weaver syndrome.

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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

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Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

American journal of medical genetics·2000

Spinal muscular atrophy variant with congenital fractures.

American journal of medical genetics·1999

Chondrodysplasia punctata stemming from maternal lupus erythematosus.

American journal of medical genetics·1999

Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research·1999

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Birth defects original article series·1996

Multisite neural tube closure in humans.

Birth defects original article series·1996

Alteration in adenosine monophosphate deaminase activity and ferric reducing capacity in diabetic renal failure patients.

Journal, genetic engineering & biotechnology·2026

Nutrition care and Dietetic Practice in Managing Metabolic and Endocrine Dysfunction in Polyendocrine Metabolic Ovarian Syndrome (PMOS): Implications and Opportunities in the Context of the Name Change of Polycystic Ovarian Syndrome (PCOS) to PMOS.

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International consensus recommendations for identifying malnutrition in children with neurological impairment.

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Neurogastroenterology and motility·2026

Disorders of Gut-Brain Interaction in Juvenile Fibromyalgia Syndrome: Prevalence, Clinical Characteristics, and Management in a Single-Centre Cohort Study.

The Journal of rheumatology·2026

Hemodynamic-Guided Nutrition Support in Pediatric Congenital Heart Disease.

Current nutrition reports·2026

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Proximal focal femoral deficiency (familial)

Related Concept Videos

Cervical spine anomalies and tumors in Weaver syndrome.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

Spinal muscular atrophy variant with congenital fractures.

Chondrodysplasia punctata stemming from maternal lupus erythematosus.

Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Multisite neural tube closure in humans.

Alteration in adenosine monophosphate deaminase activity and ferric reducing capacity in diabetic renal failure patients.

Nutrition care and Dietetic Practice in Managing Metabolic and Endocrine Dysfunction in Polyendocrine Metabolic Ovarian Syndrome (PMOS): Implications and Opportunities in the Context of the Name Change of Polycystic Ovarian Syndrome (PCOS) to PMOS.

International consensus recommendations for identifying malnutrition in children with neurological impairment.

Muscularis EGR1 Deficiency Impairs M2 Macrophage Polarization and Disrupts Gastric Motility in Diabetic Gastroparesis.

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Proximal focal femoral deficiency (familial)

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