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Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation
(Lippincott Williams & Wilkins, 2007-07-01)
In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial ...
Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation
(Lippincott Williams & Wilkins, 2007-07-01)
In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial ...
A cleft lip and palate gene, Irf6, is involved in osteoblast differentiation of craniofacial bone
(2019-03-01)
Background: Interferon regulatory factor 6 (IRF6) plays a critical role in embryonic tissue development, including differentiation of epithelial cells. Besides orofacial clefting due to haploinsufficiency of IRF6, recent ...
Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population
(Wiley-blackwell Publishing, IncMaldenEUA, 2010)
Association between IRF6 variants and nonsyndromic cleft lip with or without cleft palate in Chile
(Springer, 2020)
The aim of this study was to assess the association betweenIRF6single nucleotide polymorphisms and nonsyndromic cleft lip, with or without cleft palate (NSCL/P), in a Chilean population, based on a case-control sample and ...
Interferon-regulatory Factor 5-dependent Signaling Restricts Orthobunyavirus Dissemination To The Central Nervous System
(AMER SOC MICROBIOLOGYWASHINGTON, 2016)
Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation
(Lippincott Williams & Wilkins, 2014)
Association of an IRF3 putative functional uORF variant with resistance to Brucella infection: A candidate gene based analysis of InDel polymorphisms in goats
(Academic Press Ltd - Elsevier Science Ltd, 2019-03)
Brucellosis is an important zoonotic disease caused by infection with Brucella spp. It generates major economic losses in livestock production worldwide. Goats are the principal hosts of B. melitensis, the main infection ...
Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?
(Wiley-blackwellHobokenEUA, 2003)