4.4 Article

Clinical spectrum of male patients with OFD1 mutations

Related references

Note: Only part of the references are listed.
Letter Genetics & Heredity

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

C. Thauvin-Robinet et al.

CLINICAL GENETICS (2013)

Article Biochemistry & Molecular Biology

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

Michael Field et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L. M. Coene et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Review Genetics & Heredity

Are the Oral-Facial-Digital Syndromes Ciliopathies?

Helga V. Toriello

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Article Genetics & Heredity

The Molecular Basis of Oral-Facial-Digital Syndrome, Type 1

Marina Macca et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2009)

Article Genetics & Heredity

Identification of the gene for oral-facial-digital type I syndrome

MI Ferrante et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2001)