The camptomelic syndrome in two female siblings

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PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

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Plasma homocysteine levels and folate status in children with sickle cell anemia.

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A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.

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Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·1999

Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications.

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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.

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Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

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Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

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Underweight at age 20 and pre-pregnancy and large-for-gestational-age births in Japanese women with gestational diabetes mellitus: Hamamatsu GRACE Study 4.

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Isolated Superior Mesenteric Artery Dissection After Cesarean Delivery: A Case Report.

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The camptomelic syndrome in two female siblings

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The camptomelic syndrome in two female siblings

Abstract:

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