日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

CDK4 loss-of-function mutations cause microcephaly and short stature.

CDK4 功能丧失突变会导致小头畸形和身材矮小

Verdu Schlie Aitana, Leitch Andrea, Arismendi Maria Izabel, Stok Colin, Castro Leal Andrea, Parry David A, Marcondes Lerario Antonio, Harley Margaret E, Lucheze Bruna, Carroll Paula L, Musialik Kamila I, Auer Julia M T, Martin Carol-Anne, Gerasimavicius Lukas, Quigley Alan J, de Menezes Correia-Deur Joya Emilie, Marsh Joseph A, Reijns Martin A M, Lampe Anne K, Jackson Andrew P, Jorge Alexander A L, Tamayo-Orrego Lukas

Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations

MKRN3基因突变引起的中枢性性早熟的基因型-表型相关性

Seraphim, Carlos Eduardo; Canton, Ana Pinheiro Machado; Montenegro, Luciana; Piovesan, Maiara Ribeiro; Macedo, Delanie B; Cunha, Marina; Guimaraes, Aline; Ramos, Carolina Oliveira; Benedetti, Anna Flavia Figueiredo; de Castro Leal, Andrea; Gagliardi, Priscila C; Antonini, Sonir R; Gryngarten, Mirta; Arcari, Andrea J; Abreu, Ana Paula; Kaiser, Ursula B; Soriano-Guillén, Leandro; Escribano-Muñoz, Arancha; Corripio, Raquel; Labarta, José I; Travieso-Suárez, Lourdes; Ortiz-Cabrera, Nelmar Valentina; Argente, Jesús; Mendonca, Berenice B; Brito, Vinicius N; Latronico, Ana Claudia