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Cerebrofaciothoracic Dysplasia

Known as: CFSMR, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME 
 
National Institutes of Health

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2019
2019
Biallelic loss of function variants in the TMCO1 gene have been previously demonstrated to result in cerebrofaciothoracic… Expand
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Review
2014
Review
2014
Cerebrofaciothoracic dysplasia (CFT) (OMIM #213980) is a multiple congenital anomaly and intellectual disability syndrome… Expand
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2013
2013
Summary Cerebrofaciothoracic dysplasia (CFTD) (MIM%213980),also known as Pascual-Castroviejo type I syndrome, is anextremely rare… Expand
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2008
2008
To the Editor: Spondylocarpotarsal synostosis (SCT) syndrome (OMIM #272460), also known as congenital synspondylism, is a rare… Expand
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2005
2005
We describe the ophthalmologic findings in two cases of cerebrofaciothoracic dysplasia, a rare syndrome characterized by facial… Expand
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1992
1992
We describe two brothers, born to consanguineous parents, who had facial dysmorphism, complex anomalies of the vertebrae and ribs… Expand
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