Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis.
Vassal
H
H
Medeira
A
A
Cordeiro
I
I
Santos
H G
HG
Castedo
S
S
Saraiva
C
C
da Silva
P M
PM
Monteiro
C
C
D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D001192:Arylsulfatases / Q000172:deficiency / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002658:Developmental Disabilities / Q000201:enzymology / Q000235:genetics; D005192:Family Health; D006130:Growth Disorders / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology / Q000235:genetics; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics; D011859:Radiography; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*
C110155:ARSL protein, human; D001192:Arylsulfatases