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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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Related topics
Related topics
14 relations
Autosomal recessive inheritance
Brachycephaly
Byzanthine arch palate
Congenital fusion of ribs
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Broader (2)
Intellectual Disability
Multiple congenital anomalies
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant
Thabo Michael Yates
,
O. Ng
,
A. Offiah
,
J. Willoughby
,
J. Berg
,
Diana S. Johnson
American journal of medical genetics. Part A
2019
Corpus ID: 58768937
Biallelic loss of function variants in the TMCO1 gene have been previously demonstrated to result in cerebrofaciothoracic…
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Review
2014
Review
2014
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
Y. Alanay
,
Bekir Ergüner
,
+9 authors
N. Akarsu
American journal of medical genetics. Part A
2014
Corpus ID: 25655859
Cerebrofaciothoracic dysplasia (CFT) (OMIM #213980) is a multiple congenital anomaly and intellectual disability syndrome…
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2013
2013
An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation.
A. Cortesi
,
Maja Rossi
,
+5 authors
A. Orrico
Clinical dysmorphology
2013
Corpus ID: 35317072
Summary Cerebrofaciothoracic dysplasia (CFTD) (MIM%213980),also known as Pascual-Castroviejo type I syndrome, is anextremely rare…
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2008
2008
Spondylocarpotarsal synostosis: Long‐term follow‐up of a case due to FLNB mutations
N. Brunetti‐Pierri
,
V. Esposito
,
+4 authors
M. Salerno
American journal of medical genetics. Part A
2008
Corpus ID: 31320641
To the Editor: Spondylocarpotarsal synostosis (SCT) syndrome (OMIM #272460), also known as congenital synspondylism, is a rare…
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2005
2005
Ophthalmologic findings in cerebrofaciothoracic dysplasia.
E. Bouzas
,
P. Karadimas
,
C. Kanaka-Gantenbein
,
Constantinos Papastathopoulos
,
S. Dimitrakos
,
G. Mastorakos
Journal of pediatric ophthalmology and strabismus
2005
Corpus ID: 2310047
We describe the ophthalmologic findings in two cases of cerebrofaciothoracic dysplasia, a rare syndrome characterized by facial…
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1992
1992
Cerebrofaciothoracic dysplasia: a new family.
N. Philip
,
A. Guala
,
A. Moncla
,
M. Monlouis
,
S. Aymé
,
F. Giraud
Journal of medical genetics
1992
Corpus ID: 7104002
We describe two brothers, born to consanguineous parents, who had facial dysmorphism, complex anomalies of the vertebrae and ribs…
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