Sakati syndrome

Common Name(s)

Sakati syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sakati syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sakati syndrome" returned 7 free, full-text research articles on human participants. First 3 results:

Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.
 

Author(s): Mansoor C Abdulla, Anas M Alazami, Jemshad Alungal, Jassim M Koya, Mohthash Musambil

Journal: J. Genet.. 2015 Sep;94(3):489-92.

 

Last Updated: 7 Oct 2015

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The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.
 

Author(s): Ilham Ratbi, Jaber Lyahyai, Meryem Kabiri, Meryem Banouar, Maria Zerkaoui, Amina Barkat, Abdelaziz Sefiania

Journal: Ann Saudi Med. ;35(2):170-2.

 

Sanjad-Sakati syndrome (SSS) or hypoparathyroidism-retardation-dysmorphism syndrome (HDR) is a rare autosomal recessive disorder. It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, ...

Last Updated: 4 Sep 2015

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Status epilepticus in a child with Sanjad Sakati syndrome.
 

Author(s): Rajniti Prasad, Chhaya Kumari, Om Prakash Mishra, Utpal Kant Singh

Journal:

 

We report a 6-year-old boy who presented with status epilepticus, who had facial dysmorphism, growth and mental retardation. On investigation, he had hypocalcaemia, hypoparathyroidism and bilateral calcification of basal ganglia in cranial tomographs; features consistent with Sanjad ...

Last Updated: 4 Feb 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sakati syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.