IMPAD1mutations in two Catel-Manzke like patients

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

(2011) Lisenka E.L.M. Vissers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Catel-Manzke syndrome: A clinical report suggesting autosomal recessive inheritance

(2011) Pelin Özlem Şimşek Kiper et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cystic hygroma and hirsutism in a child with Catel–Manzke syndrome

(2011) Seema Kapoor et al.   CLINICAL DYSMORPHOLOGY

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

(2011) Franco Laccone et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutation ofCANT1causes Desbuquois dysplasia

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

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

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

Identification of CANT1 Mutations in Desbuquois Dysplasia

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

Catel–Manzke syndrome: Two new patients and a critical review of the literature

(2008) Hermann Manzke et al.   European Journal of Medical Genetics

A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation

(2008) J. P. Frederick et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA