Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib).
第一作者:
Murat,Bastepe
第一单位:
Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
作者:
主题词
儿童(Child);儿童, 学龄前(Child, Preschool);染色体, 人, 20对(Chromosomes, Human, Pair 20);疾病恶化(Disease Progression);女(雌)性(Female);随访研究(Follow-Up Studies);人类(Humans);男(雄)性(Male);系谱(Pedigree);假性甲状旁腺功能减退症(Pseudohypoparathyroidism);单亲二体性(Uniparental Disomy)
DOI
10.1016/j.bone.2010.10.168
PMID
20965295
发布时间
2024-01-02
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Bone
659-62页
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