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Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome

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Heterozygous RFX6 Protein Truncating Variants Are Associated With MODY With Reduced Penetrance

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2017English

Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

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Infant Stunting Is Associated With Short Maternal Stature

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Heterozygous Non-Synonymous IGFALS Allelic Variants Associated With Diminished Levels of All Three IGF-1, IGFBP-3 andALS Are Found in Non-Familial (NF) but Not in Familial (F) Idiopathic Short Stature (ISS) in Children

Obesity and Metabolism
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Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

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Genetic Variants in SCN5A Promoter Are Associated With Arrhythmia Phenotype Severity in Patients With Heterozygous Loss-Of-Function Mutation

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Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

American Journal of Human Genetics
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427 Short Stature Associated With TBG Excess: Improvement With T3 Treatment

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