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Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4.
Orphanet J Rare Dis. 2012.
PMID: 22236771
Free PMC article.
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem chara …
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders ( …
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome.
Chen CP, Chen CY, Chern SR, Su JW, Wang W.
Chen CP, et al.
Taiwan J Obstet Gynecol. 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001.
Taiwan J Obstet Gynecol. 2012.
PMID: 23276573
Free article.
OBJECTIVE: To present the perinatal findings and first-trimester molecular and transabdominal ultrasound diagnosis of a fetus with Ellis-van Creveld (EvC) syndrome. CASE REPORT: A 35-year-old woman was referred for genetic counseling at 13 weeks of gestation because of a f …
OBJECTIVE: To present the perinatal findings and first-trimester molecular and transabdominal ultrasound diagnosis of a fetus with Ellis-van …
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