Wieland, I

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. [electronic resource] - Clinical genetics Dec 2007 - 506-16 p. digital

Publication Type: Case Reports; Journal Article

0009-9163

10.1111/j.1399-0004.2007.00905.x doi


Adolescent
Base Sequence
Child, Preschool
Craniofacial Abnormalities--genetics
Cytoskeletal Proteins--deficiency
DNA Primers--genetics
Ectodysplasins--deficiency
Ephrin-B1--deficiency
Female
GTPase-Activating Proteins--deficiency
Gene Deletion
Genetic Diseases, X-Linked--genetics
Heterozygote
Humans
Nuclear Proteins--deficiency
Phenotype
Syndrome
Ubiquitin-Protein Ligases--deficiency