Shortened fetal long bones: A notable intrauterine phenotypic feature in SHOX-associated skeletal dysplasia

To explore the intrauterine phenotypic spectrum of short stature homeobox-containing (SHOX) gene-associated skeletal dysplasia and provide genetic counseling at-risk pregnancies. We analyzed the fetuses with SHOX-microdeletions identified by single nucleotide polymorphism (SNP)-array. The intrauteri...

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Veröffentlicht in:	Prenatal diagnosis 2023-09, Vol.43 (10), p.1355-1365
Hauptverfasser:	Hu, Rong, Huang, Weiwei, Ren, Congmian, Liu, Ling, Hou, Yaping, Wang, Yunan, Lu, Jian
Format:	Artikel
Sprache:	eng
Schlagworte:	Anomalies Arrays Bone dysplasia Bones Femur Fetuses Gene polymorphism Genetic counseling Genetic screening Haploinsufficiency Homeobox Hypoplasia Long bone Neonates Nucleotides Phenotypes Polymorphism Prenatal diagnosis Single-nucleotide polymorphism Skeleton Ultrasonic imaging
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