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

Dental abnormalities in Schimke immuno-osseous dysplasia.

Schimke 免疫骨发育不良的牙齿异常

Morimoto M, Kérourédan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M, Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, Dehaai K A, Fenkçi M S, Frange P, Fründ S, Fryssira H, Keller K, Kirmani S, Kobelka C, Kohler K, Lewis D B, Massella L, McLeod D R, Milford D V, Nobili F, Olney A H, Semerci C N, Stajic N, Stein A, Taque S, Zonana J, Lücke T, Hendson G, Bonnaure-Mallet M, Boerkoel C F

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder

确凿证据表明,存在一种常染色体隐性遗传的少汗型外胚层发育不良,其临床表现与更常见的X连锁疾病无法区分。

Munoz, F; Lestringant, G; Sybert, V; Frydman, M; Alswaini, A; Frossard, P M; Jorgenson, R; Zonana, J

Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia

对患有 X 连锁少汗型外胚层发育不良症的家族进行新生突变检测及其起源分析

Zonana, J; Jones, M; Clarke, A; Gault, J; Muller, B; Thomas, N S