Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature
المؤلفون المشاركون
Calikoglu, Ali S.
Sandberg, Elizabeth S.
Loechner, Karen J.
Snyder, Lydia L.
المصدر
العدد
المجلد 2017، العدد 2017 (31 ديسمبر/كانون الأول 2017)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2017-08-30
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2–15%).
Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene.
Index case was a 3-year-old male who presented for evaluation of short stature.
His past medical history and birth history were unremarkable.
Family history was notable for multiple individuals with short stature.
Physical exam revealed short stature, with height standard deviation score (SDS) of −2.98, as well as arm span 3 cm less than his height.
His laboratory workup was noncontributory for common etiologies of short stature.
Due to significant familial short stature and shortened arm span, SHOX gene analysis was performed and revealed patient is heterozygous for a novel SHOX gene mutation at nucleotide position c.582.
This mutation is predicted to cause termination of the SHOX protein at codon 194, effectively causing haploinsufficiency.
Six out of nine other siblings were later found to also be heterozygous for the same mutation.
Growth hormone was initiated in all seven siblings upon diagnosis and they have demonstrated improved height SDS.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Sandberg, Elizabeth S.& Calikoglu, Ali S.& Loechner, Karen J.& Snyder, Lydia L.. 2017. Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature. Case Reports in Endocrinology،Vol. 2017, no. 2017, pp.1-5.
https://search.emarefa.net/detail/BIM-1145153
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Sandberg, Elizabeth S.…[et al.]. Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature. Case Reports in Endocrinology No. 2017 (2017), pp.1-5.
https://search.emarefa.net/detail/BIM-1145153
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Sandberg, Elizabeth S.& Calikoglu, Ali S.& Loechner, Karen J.& Snyder, Lydia L.. Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature. Case Reports in Endocrinology. 2017. Vol. 2017, no. 2017, pp.1-5.
https://search.emarefa.net/detail/BIM-1145153
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1145153
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر