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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
BMC Med Genet. 2018 Mar 2;19(1):32. doi: 10.1186/s12881-018-0530-z.
BMC Med Genet. 2018.
PMID: 29499646
Free PMC article.
Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.
Vado Y, Pereda A, Manero-Azua A; Spanish Network for Imprinting Disorders; Perez de Nanclares G.
Vado Y, et al.
Front Endocrinol (Lausanne). 2023 Jan 4;13:1055431. doi: 10.3389/fendo.2022.1055431. eCollection 2022.
Front Endocrinol (Lausanne). 2023.
PMID: 36686455
Free PMC article.
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