Immunoglobulin deficiency in Stickler syndrome.
Mikhak
Zamaneh
Z
Healthy Link Asthma Education Program, Children's Hospital, Boston, Massachusetts, USA. zmikhak@partners.org
Kelly
Pamela
P
Cohen
Tatyana S
TS
Cox
Joanne E
JE
Kimonis
Virginia E
VE
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000276:immunology; D002675:Child, Preschool; D024043:Collagen Type II / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005260:Female; D006314:Hearing Loss, Conductive; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology; D009154:Mutation; D013577:Syndrome
C499177:COL2A1 protein, human; D024043:Collagen Type II