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A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

Crossref DOI link: https://doi.org/10.1186/s12881-020-0964-y

Published Online: 2020-01-31

Published Print: 2020-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Afzal, Sibtain

Ramzan, Khushnooda

Ullah, Sajjad

Wakil, Salma M.

Jamal, Arshad

Basit, Sulman

Waqar, Ahmed Bilal https://orcid.org/0000-0001-8255-3634
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Article History

Received: 4 September 2019

Accepted: 24 January 2020

First Online: 31 January 2020

Ethics approval and consent to participate

: This study was approved by the guidelines of the Ethics Committee of Faculty of Allied & Health Sciences, Imperial College of Business Studies, Lahore, Pakistan. Written informed consent was obtained from all subjects or their parents/legal guardians prior to their participation.

: Written informed consent for publication of individual/genetic data and clinical images was obtained from the participants or parents/legal guardians of any participant under the age of 18.

: The authors declare that they have no competing interest.

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