Priolo, Manuela <br/><br/>
Further delineation of Malan syndrome.  [electronic resource] 

 -  Human mutation  09 2018 
 - 1226-1237 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23563  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Adult<br/>Bone Diseases, Developmental--genetics<br/>Child<br/>Child, Preschool<br/>Chromosome Deletion<br/>Congenital Hypothyroidism--genetics<br/>Craniofacial Abnormalities--genetics<br/>Developmental Disabilities--genetics<br/>Exons--genetics<br/>Female<br/>Hand Deformities, Congenital--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Megalencephaly--genetics<br/>Mutation, Missense--genetics<br/>NFI Transcription Factors--genetics<br/>Phenotype<br/>Septo-Optic Dysplasia--genetics<br/>Sotos Syndrome--genetics<br/>Young Adult