A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...

متن کامل

a comparison of teachers and supervisors, with respect to teacher efficacy and reflection

supervisors play an undeniable role in training teachers, before starting their professional experience by preparing them, at the initial years of their teaching by checking their work within the proper framework, and later on during their teaching by assessing their progress. but surprisingly, exploring their attributes, professional demands, and qualifications has remained a neglected theme i...

15 صفحه اول

Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment

Hyung Suk Jin, M.D., Ho young Song, M.D., Sung Yoon Cho, M.D., Chang-Seok Ki, M.D., Song Hyun Yang, Ph.D., Ok-Hwa Kim, M.D., and Su Jin Kim, M.D. Green Cross Laboratories, Yongin; Department of Pediatrics, Myongji Hospital, Seonam University College of Medicine, Goyang; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Laboratory ...

متن کامل

Familial Cleidocranial Dysplasia in a Neonate: A Case Report

Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...

متن کامل

validation of a revised logical-mathematical intelligence scale and exploring its relationship with english language proficiency

نظریه هوش چندگانه قسمتهای متفاوت هوش بشری را مورد بررسی قرار می دهد که با شناخت آن شخص به درک بهتری از توانایی های خود میرسد و در نتیجه سعی در استفاده از آن جهت یادگیری بهتر میکند. همچنین با شناخت استعداد دانش آموزان، فرایند یادگیری بهتر میشود. هدف از انجام دادن این تحقیق بررسی رابطه بین هوش ریاضی و استعداد یادگیری زبان انگلیسی میباشد. برای انجام این تحقیق از پرسشنامه هوش ریاضی که توسط شیرر در ...

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology

سال: 2019

ISSN: 1308-5727,1308-5735

DOI: 10.4274/jcrpe.galenos.2018.2018.0211