Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

Gordon, Christopher T

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. [electronic resource] - American journal of human genetics Apr 2015 - 519-31 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2015.01.015 doi


Alopecia--genetics
Animals
Base Sequence
Endothelin-1--metabolism
Exome--genetics
Humans
In Situ Hybridization
Mandibulofacial Dysostosis--genetics
Molecular Sequence Data
Morpholinos--genetics
Mutation, Missense--genetics
Pedigree
RNA, Messenger--administration & dosage
Real-Time Polymerase Chain Reaction
Receptor, Endothelin A--genetics
Sequence Analysis, DNA
Syndrome
Tomography, X-Ray Computed
Zebrafish
Zygoma--pathology