Further delineation of Malan syndrome.

Priolo, Manuela

Further delineation of Malan syndrome. [electronic resource] - Human mutation 09 2018 - 1226-1237 p. digital

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

1098-1004

10.1002/humu.23563 doi


Abnormalities, Multiple--genetics
Adolescent
Adult
Bone Diseases, Developmental--genetics
Child
Child, Preschool
Chromosome Deletion
Congenital Hypothyroidism--genetics
Craniofacial Abnormalities--genetics
Developmental Disabilities--genetics
Exons--genetics
Female
Hand Deformities, Congenital--genetics
Humans
Intellectual Disability--genetics
Male
Megalencephaly--genetics
Mutation, Missense--genetics
NFI Transcription Factors--genetics
Phenotype
Septo-Optic Dysplasia--genetics
Sotos Syndrome--genetics
Young Adult