GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata

Congenital combined vitamin K‐dependent clotting factors deficiency (VKCFD) is a rare autosomal recessive disease resulting in hemorrhagic symptoms usually associated with developmental disorders and bone abnormalities. Pathogenic variants in two genes encoding enzymes of the vitamin K cycle, GGCX a...

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Vydáno v:	American journal of medical genetics. Part A Ročník 188; číslo 1; s. 314 - 318
Hlavní autoři:	Mathonnet, Alix, Cunat, Séverine, Allias, Fabienne, Caillot, Sandrine, Thonnon, Cyrielle, Till, Marianne, Attié‐Bitach, Tania, Touraine, Renaud, Meunier, Sandrine, Cartellier, Charline, Rossi, Massimiliano, Attia, Jocelyne, Putoux, Audrey
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Hoboken, USA John Wiley & Sons, Inc 01.01.2022 Wiley Subscription Services, Inc Wiley
Témata:	Blood Coagulation Factors Bone growth brain hemorrhage Carbon-Carbon Ligases - genetics chondrodysplasia punctata Chondrodysplasia Punctata - diagnosis Chondrodysplasia Punctata - genetics Chondrodystrophy Clotting congenital combined vitamin K‐dependent clotting factors deficiency Developmental disabilities Epiphysis Etiology Female Fetus Fetuses Genetics GGCX Hemorrhage Humans Life Sciences Male Neurodevelopmental disorders Phenotypes Pregnancy Vitamin K Vitamin K 1 Vitamin K Epoxide Reductases - genetics congenital combined vitamin K-dependent clotting factors deficiency GGCX brain hemorrhage chondrodysplasia punctata brain hemorrhage chondrodysplasia punctata congenital combined vitamin K-dependent clotting factors deficiency GGCX
ISSN:	1552-4825, 1552-4833, 1552-4833
On-line přístup:	Získat plný text
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