Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

A second generation human haplotype map of over 3.1 million SNPs

Sarah S. Murray, Todd A. Johnson · Nature · 2007 · 4.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Identification of CANT1 Mutations in Desbuquois Dysplasia

Céline Huber, Bénédicte Oulès, Marta Bértoli et al. · The American Journal of Human Genetics · 2009 · 107 citations · Full text

Life Sciences, Genetics, Pathology +13

Desbuquois dysplasia, a reevaluation with abnormal and “normal” hands: Radiographic manifestations

Laurence Faivre, Valérie Cormier‐Daire, Alison M. Eliott et al. · American Journal of Medical Genetics Part A · 2003 · 59 citations · Full text

Medicine, Oral Radiology, Orthopedic Surgery +17

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

Ok‐Hwa Kim, Gen Nishimura, Hae‐Ryong Song et al. · American Journal of Medical Genetics Part A · 2010 · 51 citations

Medicine, Orthopaedic Surgery, Orthopedic Surgery +17

<i>CANT1</i> mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

Tatsuya Furuichi, Jin Dai, Tae‐Joon Cho et al. · Journal of Medical Genetics · 2010 · 49 citations

Medicine, Genetics, Molecular Genetics +17