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Synophrys
Known as:
Monobrow
, Synophris
, Unibrow
Meeting of the medial eyebrows in the midline. [pmid:19125427]
National Institutes of Health
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Related topics
Related topics
39 relations
Atkin syndrome
CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I
CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 5
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.
Nazanin Jalilian
,
Mohammad Amin Tabatabaiefar
,
M. Farhadi
,
Tayyeb Bahrami
,
M. Noori-Daloii
International Journal of Pediatric…
2015
Corpus ID: 40636004
Review
2013
Review
2013
6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.
M. Bozza
,
L. Bernardini
,
+6 authors
A. Battaglia
European journal of paediatric neurology
2013
Corpus ID: 33115225
Review
2005
Review
2005
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?
L. Titomanlio
,
S. Bennaceur
,
D. Bremond-Gignac
,
C. Baumann
,
O. Dupuy
,
A. Verloes
American Journal of Medical Genetics. Part A
2005
Corpus ID: 25690356
We report on a 3‐year‐old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis…
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2004
2004
Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)
M. Rufo-Campos
,
Pilar Riveros-Huckstadt
,
G. Rodríguez-Criado
,
Rocío Hernández-Soto
Brain & development (Tokyo. )
2004
Corpus ID: 44937374
2003
2003
Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event
J. Vermeesch
,
R. Thoelen
,
I. Salden
,
M. Raes
,
G. Matthijs
,
J. Fryns
Journal of Medical Genetics
2003
Corpus ID: 8112903
Various chromosomal rearrangements are associated with the distal 8p region. Among them are the inv dup(8p),1 del(8p22),2–5 and…
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Review
2001
Review
2001
Terminal 6q25.3 deletion and abnormal behaviour.
T. Lukusa
,
D. Willekens
,
N. Lukusa
,
F. de Cock
,
J. Fryns
Genetic Counseling
2001
Corpus ID: 10044981
A 10-year-old mentally retarded boy with terminal 6q25 deletion, dysmorphism and striking abnormal behaviour is reported. The…
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1998
1998
T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online.
C. Menzaghi
,
R. Dipaola
,
+4 authors
De Filippis
Human Mutation
1998
Corpus ID: 30315611
Resistance to thyroid hormone (RTH) is a rare inherited autosomal syndrome caused by mutations in the thyroid hormone receptor…
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1992
1992
Autosomal recessive blepharophimosis, ptosis, V‐esotropia, syndactyly and short stature
M. Frydman
,
H. Cohen
,
G. Karmon
,
H. Savir
Clinical Genetics
1992
Corpus ID: 9758265
Frydman M, Cohen HA, Karmon G, Savir H. Autosomal recessive blepharophimosis, ptosis, V‐esotropia, syndactyly and short stature…
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1977
1977
Ocular findings in triploidy.
A. Fulton
,
R. O. Howard
,
D. Albert
,
Y. Hsia
,
S. Packman
American journal of ophthalmology-glaucoma
1977
Corpus ID: 1734678
1972
1972
Síndrome de Cornelia de Lange
Lineu César Werneck
,
Francisco Antonio Marçallo
1972
Corpus ID: 72644563
A case of Cornelia de Lange syndrome is reported. The clinical picture included mental retardation, hirsutism, synophris…
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