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13.8. Analysis of the screening results for congenital adrenal hyperplasia involving 7.85 million newborns in China: a systematic review and meta-analysis

Z Li , L Huang , C Du , C Zhang , M Zhang , Y Liang , X Luo

Front Endocrinol 2021; 12:624507. doi: 10.3389/fendo.2021.624507 This systematic review identified 41 Chinese studies totalling 7,853,756 newborns who underwent neonatal CAH screening The overall incidence of CAH in China was 1/23,024 (95% CI, 1/25,757 to 1/20,815) Among the CAH patients, the Male:Female ratio was 1.92:1, and 76% presented with salt wasting<p class=...

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ey0021.6-7 | Clinical and Molecular Insights into SF1 Deficiency | ESPEYB21

6.7. Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development

GF Del Gobbo , X Wang , M Couse , L Mackay , C Goldsmith , AE Marshall , Y Liang , C Lambert , S Zhang , H Dhillon , C Fanslow , WJ Rowell , Canada Consortium Care4Rare , CR Marshall , KD Kernohan , KM Boycott

Brief Summary: This study performed long-read genome sequencing (lr-GS) using PacBio HiFi on several members of a four-generation family presenting with autosomal dominant (AD) 46,XY differences of sexual development (DSD). This family had undergone a lengthy molecular diagnostic process with no conclusive results. Lr-GS offers enhanced mapping capabilities in highly repetitive, homologous, and low-complexity regions, providing better assessment of structural variations and co...

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ESPE Yearbook of Paediatric Endocrinology

13.8. Analysis of the screening results for congenital adrenal hyperplasia involving 7.85 million newborns in China: a systematic review and meta-analysis

6.7. Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development

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