Article
[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].
Harefuah - 1 Jun 2023
Hadid Yarin, Daher Ziad, Mahroum Mohammad, Shalata Anan, Nakhleh Francis Yara, Shalata Hassan, Broneshter Vinter Rinat, Ziv Mira, Furman Chaya, Ali Vaspya, Levitaz Jasmin, Shalata Adel
Abstract excerpt
BACKGROUND: Short stature is a common finding among the general population, mostly presented as an isolated phenotype. The syndromic short statute is rare and complex. Recently, we examined several patients from related families sharing both short stature and congenital dental abnormalities. OBJECTIVES: 1. Clinical characterization of syndromic short stature; 2. To find the disease mutation and evaluate the...
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