Novel splice (IVS18+1G > C) mutation in COL2A1 causing Kniest dysplasia

Journal article

Peer reviewed

Nadia Al-Hashmi, Faiqa Imtiaz, Khushnooda Ramzan, Maha Faden, Taghreed Shuaib, Lefian Al-Otaibi, Amal Al-Hemidan and Mohammed Al-Owain

Clinical dysmorphology, Vol.22(1), pp.39-41

01/01/2013

PMID: 23188137

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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Title: Novel splice (IVS18+1G > C) mutation in COL2A1 causing Kniest dysplasia
Creators - without role: Nadia Al-Hashmi - Royal Hospital
Faiqa Imtiaz - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Khushnooda Ramzan - King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Maha Faden - College Station Medical Center
Taghreed Shuaib - King Abdulaziz University
Lefian Al-Otaibi - King Faisal Specialist Hosp & Res Ctr, Dept Radiol, Riyadh 11211, Saudi Arabia
Amal Al-Hemidan - King Faisal Specialist Hosp & Res Ctr, Dept Surg, Riyadh 11211, Saudi Arabia
Mohammed Al-Owain - King Faisal Specialist Hospital & Research Centre
Publication Details: Clinical dysmorphology, Vol.22(1), pp.39-41
Publisher: Lippincott Williams & Wilkins
Number of pages: 3
Identifiers: 9937042808331
Academic Unit: King Abdulaziz University; King Saud University
Language: English
Resource Type: Journal article