X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome.
Genuardi
M
M
Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome, Italy.
Chiurazzi
P
P
Capelli
A
A
Neri
G
G
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001006:Anus, Imperforate / Q000235:genetics*; D004933:Esophageal Atresia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011884:Radius / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D014138:Tracheoesophageal Fistula / Q000235:genetics*; D014960:X Chromosome