Mehran Kausar1,2, Naveed Ashraf3, Farzana Hayat4, Asraf Hussain Hashmi1, Saima Siddiqi1,* and Mariam Anees2 (OMIM 265800) with an autosomal recessive mode of inheritance. More than 50 mutations have been reported in CTSK (Cathepsin k) responsible for this disease. Mutations in CTSK result in impaired bone resorption consequently leading to short stature, increased bone density, recurrent fractures, stubby hands and feet with dystrophic nails, unossified fontanels, and an obtuse mandibular. The present study was conducted to determine the underlying ...
Zahid Latif1,*, Kathrin Blasius2-4, Tufail Hussain Tahir7, Muhammad Nasim Khan1, Ghazanfar Ali5, Ansar Ahmed Abbasi6, Abdul Rauf1, Hao Hu8 and Angela M. Kaindl2,3,4
...ariant for non-syndromic autosomal recessive retinitis pigmentosa.
Ansar Ahmed Abbasi1,*, Kathrin Blasius2-4, Imtiaz Ahmed6, Hao Hu7, Sylvie Picker-Minh2-4,8, Muhammad Nasim Khan5, Khalid Hameed1, Aneela Gulnaz1, Zahid Latif5, Abdul Rauf5 and Angela M. Kaindl2-4,8
Shagufta Naz*, Saima Sharif, Hafsa Badar, Syeda Fareeha Tauheed
...neal dystrophy (MCD), an autosomal recessive hereditary disease, slowly progresses punctate opacities in the cornea which result in bilateral loss of vision and leads to corneal transplantation. A cross-sectional, analytical study was carried out from August, 2015 to May, 2016 on and MCD patients were diagnosed by visiting different hospitals like, General Hospital, Al-Ehsan welfare Hospital, Mughal eye and Mayo Hospital with the help of ophthalmologist. The m...
Syeda Ain-ul-Batool1, Sadia1, Kathrin Blasius2,3,4, Angela Kaindl2,3,4 and Ghazanfar Ali1,*
...syndrome (BBS) is a rare autosomal recessive ciliopathic genetic disorder in humans. It is a multisystem disorder and is principally described by visual abnormalities, con-rod dystrophy, eyes exotropia, obesity, polydactyly, hypogonadism, and renal abnormalities. Few additional features of BBS also include delayed motor development, clumsiness, anosomia, ataxia, hypodontia, hearing impairment, hirschsprung disease, cardiovascular and liver disorders. So far 21...
Sajida Rasool1, Saba Irshad1*, Neelam Saba1, Mehak Fiaz1Muhammad Sajid Hussain2, MuhammadWajid Hussain3 and Peter Nürnberg2 of HSP penetrating in autosomal recessive pattern was ascertained. Patients presented spasticity and stiffness of upper and lower limbs, severe microcephaly, dysphagia, no speech, hearing loss and seizures. Genome wide linkage analysis and whole exome sequencing revealed a novel homozygous nonsense mutation (c.204T>G) in BICD2 gene which was predicted to yield a truncated protein product (p. Glu68*). This is first nonsense mutation being reported ...

 Muhammad Ajmal1, Saima Mustafa1, Fizza Ibrahim Bajwa1, Cheng Zhou2, Guangdong Wen2, Soe Lwin Myint2, Syed Irfan Raza3, Ihtasham Bukhari4, Mubashir Hassan5, Muhammad Faisal6 and Furhan Iqbal1*

... lesions (APL) is a rare autosomal recessive form of total alopecia, characterized by hair loss soon after birth and the development of papular lesions of keratin-filled cysts over extensive areas of the body. Two consanguineous families were enrolled from Basti Mochi Wala, Mouza Gulab Shah in Muzaffargarh District of Punjab (Pakistan) having multiple siblings suffering from alopecia. The aim of this study was to find out the genetic mutation(s) in hairless (<...

Pakistan Journal of Zoology


Vol. 54, Iss. 5, Pages 2003-2500


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