Additional Tunisian patients with Sanjad–Sakati syndrome: A review toward a consensus on diagnostic criteria

Sanjad–Sakati syndrome (SSS; OMIM 241410) is a rare autosomal recessive disorder found almost exclusively in people of Arab origin. It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism. The molecular pathology of this...

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Veröffentlicht in:	Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2019-02, Vol.26 (2), p.102-107
Hauptverfasser:	Touati, A., Nouri, S., Halleb, Y., Kmiha, S., Mathlouthi, J., Tej, A., Mahdhaoui, N., Ben Ahmed, A., Saad, A., Bensignor, C., H’mida Ben Brahim, D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Consensus Diagnostic criteria Dysmorphism Female Genetic Markers Growth Disorders - diagnosis Growth Disorders - genetics Growth retardation Humans Hypoparathyroidism Hypoparathyroidism - diagnosis Hypoparathyroidism - genetics Infant Infant, Newborn Intellectual Disability - diagnosis Intellectual Disability - genetics Male Molecular Chaperones - genetics Osteochondrodysplasias - diagnosis Osteochondrodysplasias - genetics Seizures - diagnosis Seizures - genetics Sequence Deletion Tunisia
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