Exome Sequencing in Monogenic Forms of Rickets.
Prince JacobGandham SriLakshmi BhavaniPrajna UdupaZheng WangSankar V HariharanKishan DelampadyAshwin DalalNutan KamathShiro IkegawaRathika D ShenoyKoushik HandattuHitesh ShahKatta Mohan GirishaPublished in: Indian journal of pediatrics (2023)
The authors hereby report a case series of individuals from India with a molecular diagnosis of rickets and provide the literature review which would help in enhancing the clinical and molecular profile for rapid and differential diagnosis of rickets.