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

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign

(2010) Gareth Baynam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) Ok-Hwa Kim et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation ofCANT1causes Desbuquois dysplasia

(2010) Maha Faden et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Desbuquois syndrome in an Arab Bedouin family

(2010) L I. Al-Gazeli et al.   CLINICAL GENETICS

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

(2010) T. Furuichi et al.   JOURNAL OF MEDICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Identification of CANT1 Mutations in Desbuquois Dysplasia

(2009) Céline Huber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional characterization of a salivary apyrase from the sand fly, Phlebotomus duboscqi, a vector of Leishmania major

(2009) Ryoichi Hamasaki et al.   JOURNAL OF INSECT PHYSIOLOGY

A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations inDTDST

(2008) K.M. Panzer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia

(2008) Atsushi Miyake et al.   JOURNAL OF HUMAN GENETICS