Chromosome Xp22.3 deletion syndrome with X-linked ichthyosis, Kallmann syndrome, short stature, generalized epilepsy, hearing loss, attention deficit hyperactivity disorder, and intellectual disability - A rare report with review of literature.

Autor: Gunasekaran, Pradeep Kumar, Saini, Lokesh, Rajial, Tanuja, Manjunathan, Sujatha, Laxmi, Veena, Gupta, Rahul, Kumar, Ashna, Parameswaran, Arun Sree, Palayullakandi, Achanya, Budania, Anil, Singh, Kuldeep

Publikováno v: Journal of Neurosciences in Rural Practice; Jul-Sep2024, Vol. 15 Issue 3, p425-6, 6p

Rare Variant of PTH1R Mutation in an Indian Family.

Autor: Parameswaran AS; All India Institute of Medical Sciences, Jodhpur, Rajasthan, India., Singh K; All India Institute of Medical Sciences, Jodhpur, Rajasthan, India., Vyas V; All India Institute of Medical Sciences, Jodhpur, Rajasthan, India., Tada NK; All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

Publikováno v: The Journal of the Association of Physicians of India [J Assoc Physicians India] 2023 Jan; Vol. 71 (1), pp. 1.