Results 151 to 160 of about 6,129 (165)
Some of the next articles are maybe not open access.

Joubert\'s syndrome - The \'Molar Tooth\' and \'Bat Wing\' signs

2013
Clinical History: A 5-month-old boy presented with complaints of abnormal eye movements. The parents of the child also noticed that he was unable to fixate and follow objects visually. No history of abnormal breathing pattern or seizure. Developmental history was normal. H...
openaire   +1 more source

KLEEFSTRA SYNDROME: NEW MOLAR TOOTH SIGN OF MID- BRAIN?

2019
Kleefstra syndrome (KS) is a rare geneticcondition with autoso-mal dominant inheritance characterized by intellectualdisability(ID), autistic-like features, childhood hypotonia, and distinctive facialfeatures. The diagnosis of KS is established on by eithera mutation in the(EHMT1) gene (rarely) or by a microdeletion inthe 9q34.3.
YAZOL, MERVE   +3 more
openaire   +1 more source

Molar tooth sign (CNS)

2010
Frank Gaillard   +2 more
openaire   +1 more source

Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes

American Journal of Medical Genetics Part A, 2004
Joseph G Gleeson   +2 more
exaly  

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia

Journal of the Neurological Sciences, 2017
Mikako Enokizono   +2 more
exaly  

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