Temple syndrome is an imprinting disorder resulting from abnormal genomic or epigenomic aberrations of chromosome 14 including maternal uniparental disomy, paternal deletion of 14q32, or aberrant meth

DataCite Commons2026-03-04 更新60

Data_Sheet_1_2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance.PDF

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Pseudohypoparathyroidism (PHP) is a rare endocrine disorder derived from the defective activation of the cAMP pathway by the parathyroid hormone secondary to GNAS molecular defects. PHP subtypes are d

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