Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients

Author:

Nawaz Hamed,Parveen Asia,Khan Sher Alam,Zalan Abul Khair,Khan Muhammad AdnanORCID,Muhammad Noor,Hassib Nehal F.,Mostafa Mostafa I.ORCID,Elhossini Rasha M.,Roshdy Nehal Nabil,Ullah AsmatORCID,Arif AminaORCID,Khan Saadullah,Ammerpohl Ole,Wasif NaveedORCID

Funder

Alexander von Humboldt-Stiftung

National Research Centre

Higher Education Commission Pakistan

Publisher

Elsevier BV

Subject

Multidisciplinary

Reference40 articles.

1. PAPSS2-related brachyolmia: clinical and radiological phenotype in 18 new cases;Bownass;Am. J. Med. Genet.,2019

2. Brachyolmia: radiographic and genetic evidence of heterogeneity;Shohat;Am. J. Med. Genet.,1989

3. A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in LTBP3;Flex;Genes,2021

4. LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections;Guo;Am. J. Hum. Genet.,2018

5. Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders;Intarak;Mol. Genet. Genom.,2019

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