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Quoted phrase not found in phrase index: "Orofaciodigital syndrome 8"
Page 1
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Hum Genet. 2015 Jan;134(1):123-6. doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19.
Hum Genet. 2015.
PMID: 25407461
Free PMC article.
Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). ...A comparison of mutated vs. non-mutated OFDVI patients showed that preaxi …
Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as …
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.
Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM.
Feather SA, et al.
Hum Mol Genet. 1997 Jul;6(7):1163-7. doi: 10.1093/hmg/6.7.1163.
Hum Mol Genet. 1997.
PMID: 9215688
Key features of the oral-facial-digital syndrome type 1 (OFD1) include malformations of the face, oral cavity and digits. ...Therefore, the OFD1 gene product appears to have widespread importance in organogenesis and is essential for fetal survival. We have studied two kin …
Key features of the oral-facial-digital syndrome type 1 (OFD1) include malformations of the face, oral cavity and digits. ...Therefor …
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Meningitis due to Haemophilus influenzae type f in an 8-year-old girl with congenital humoral immunodeficiency.
Fickweiler K, Borte M, Fasshauer M, Spencker FB, Handrick W, Rodloff AC.
Fickweiler K, et al.
Infection. 2004 Apr;32(2):112-5. doi: 10.1007/s15010-004-3040-1.
Infection. 2004.
PMID: 15057576
Review.
We report on an 8-year-old Haemophilus influenzae type b-vaccinated girl with meningitis due to H. influenzae type f. The girl had an oro-facio-digital syndrome and a hypogammaglobulinemia, obviously predisposing the patient to invasive infections. ...
We report on an 8-year-old Haemophilus influenzae type b-vaccinated girl with meningitis due to H. influenzae type f. The girl had an oro-fa …
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