Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial,
oral and digital abnormalities associated with a wide range of additional features (polycystic …

… Phadke a , Yamini Jaiswal b … Contributing authors Sarita Agarwal and Shubha Phadke
made substantial contributions to the design of the manuscript and the acquisition. …

Joubert syndrome–related disorders (JSRDs) are a group of clinically and genetically
heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS…

The field of clinical genetics and genomics continues to evolve. In the past few decades,
milestones like the initial sequencing of the human genome, dramatic changes in sequencing …

Objectives: To present a comprehensive analysis of autopsy findings in 206 fetuses referred
to our genetic center and to assess the clinical utility of fetal autopsy in reaching a final …

Compaction of chromosomes is essential for accurate segregation of the genome during
mitosis. In vertebrates, two condensin complexes ensure timely chromosome condensation, …

Noonan syndrome (NS) is a common genetic syndrome associated with gain of function
variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized …

Progressive pseudorheumatoid dysplasia (PPD) is a progressive skeletal syndrome
characterized by stiffness, swelling and pain in multiple joints with associated osteoporosis in …

Given the genomic uniqueness, a local data set is most desired for Indians, who are
underrepresented in existing public databases. We hypothesize patients with rare monogenic …

Introduction Forkhead Box P3 (FOXP3) is an essential transcription factor for the induction
and development of Tregs. It plays an important role in regulation and suppression of immune …