Rapid umbilical cord diagnostic of hereditary profound hearing loss: how we do it.
Birkenhäger
R
R
Department of Oto-Rhino-Laryngology, Head and Neck Surgery, University Medical Center Freiburg, Germany. ralf.birkenhaeger@uniklinik-freiburg.de
Maier
W
W
Kunze
M
M
Aschendorff
A
A
Arndt
S
S
D000483:Alleles; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D000076988:Sulfate Transporters; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014470:Umbilical Cord / Q000378:metabolism*; D014723:Vestibular Aqueduct / Q000002:abnormalities
D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26