Yuyan Fu

Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations

Fang Shen, Yongjia Yang, Yu Long Zheng, Ming Tu et autres

B3GALT6 is a well-documented disease-related gene. Several B3GALT6-recessive variants have been reported to cause Ehlers–Danlos syndrome (EDS). To the best of our knowledge, no dominant B3GALT6 variant that causes human disease has been reported. In 2012, we reported on a three-generation, autosomal-dominant …

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MECOM-related disorder: Radioulnar synostosis without hematological aberration due to unique variants

Fang Shen, Yongjia Yang, Yu Zheng, Pengcheng Li et autres

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Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum

Yu Zheng, Guanghui Zhu, Yaoxi Liu, Weihua Zhao et autres

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A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis

Fang Shen, Yongjia Yang, Pengcheng Li, Yu Zheng et autres

BACKGROUND: SMAD6 variants have been reported in patients with radioulnar synostosis (RUS). This study aimed to investigate the genotypes and phenotypes for a large cohort of patients with RUS having mutant SMAD6. METHODS: Genomic DNA samples were isolated from 251 RUS sporadic …

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Disorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY Mosaicism in Gonad Tissues

Yongjia Yang, Fang Joe Chen, Zhenqing Luo, Yu Zheng et autres

Y chromosome represents masculinization. The extra Y chromosome of XYY patients usually leads to over-masculinization phenotypes. The occurrence of several DSD cases with XYY in blood is controversial. Is XYY associated with disorder of sex development (DSD)? What is the mechanism behind …

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