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Fanconi anemia
Relevant markers:
Nuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaShort radiusParents markers:Agenesis of corpus callosum (ACC)GenitourinaryHeartMicrocephalyMicrophthalmiaThumb VentriculomegalyIntrauterine growth retardation (IUGR/SGA/FGR)
Incidence: 1/160000 — - Involved genes:
(gene — definition — chromosome)FANCB — X, FANC-BRCA2, FANCC Inheritance mode: AR, X-linked Other online databases: OrphaNet, OMIM, Geneva Foundation References: 2012 J Clin Invest. Read on PubMed 2012 Head Neck. case report Read on PubMed 2012 case report Ann Lab Med Read on PubMed Login for more details.