Molecular defects in pseudohypoparathyroidism or related disorders. Homo sapiens
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2012-01-06
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Supplementary Material for: Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ec
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Additional file 1: of Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects
This contains additional files for Tables S1-S7.
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Supplementary Material for: Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a
Background/Aims: Pseudohypoparathyroidism type 1a (PHP1a) is a rare genetic disorder. This study aimed to determine the prevalence of sleep apnea in children with PHP1a. Methods:</
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Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS
Patients diagnosed with pseudohypoparathyroidism type Ia (PHP Ia) suffer from hormonal resistance. This is often accompanied by abnormal postural and facial features, brachydactyly and dermal calcific
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Supplementary Material for: Characterization of digestive manifestations in patients with impaired PTH/PTHrP signaling (iPPSD)/Pseudohypoparathyroidism
Introduction: Pseudohypoparathyroidism, newly classified as inactivating PTH/PTHrP signaling disorder (iPPSD) type 2 or type 3 is a rare disease caused by defects in the GNAS imprinted gene that encod
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