지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제25권 제2호
- 발행연도
- 2020.1
- 수록면
- 126 - 131 (6page)
이용수
초록· 키워드
오류제보하기
Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with Floating-Harbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy.
목차
등록된 정보가 없습니다.
참고문헌 (19)
참고문헌 신청
Hood RL / 2016 / The defining DNA methylation signature of Floating-Harbor Syndrome / Sci Rep 6:38803
Hood RL / 2012 / Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome / Am J Hum Genet 90:308~313
Leisti J / 1975 / The Floating-Harbor syndrome / Birth Defects Orig Artic Ser 11:305
Nagasaki K / 2014 / Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation / Am J Med Genet A 164A:731~735
Nikkel SM / 2013 / The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP / Orphanet J Rare Dis 8:63
Hood RL / 2012 / Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome / Am J Hum Genet 90:308~313
Leisti J / 1975 / The Floating-Harbor syndrome / Birth Defects Orig Artic Ser 11:305
Nagasaki K / 2014 / Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation / Am J Med Genet A 164A:731~735
Nikkel SM / 2013 / The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP / Orphanet J Rare Dis 8:63
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing
Clinical and Experimental Pediatrics
2018 .01
-
The effects of growth hormone treatment on height in short children
Annals of Pediatirc Endocrinology & Metabolism
2022 .03
-
Myhre syndrome: the first case in Korea
Annals of Pediatirc Endocrinology & Metabolism
2021 .09
-
Deciphering short stature in children
Annals of Pediatirc Endocrinology & Metabolism
2020 .01
-
The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings
Yonsei Medical Journal
2020 .01
-
Evaluation of craniofacial morphology in short-statured children: growth hormone deficiency versus idiopathic short stature
Journal of Yeungnam Medical Science
2021 .01
-
Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches
Annals of Pediatirc Endocrinology & Metabolism
2021 .12
-
The influence of pituitary volume on the growth response in growth hormone-treated children with growth hormone deficiency or idiopathic short stature
Annals of Pediatirc Endocrinology & Metabolism
2024 .04
-
Etiologies and characteristics of children with chief complaint of short stature
Annals of Pediatirc Endocrinology & Metabolism
2015 .01
-
Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature
Journal of genetic medicine
2018 .01
-
Effect of Hormone Therapy on Long-term Outcomes of Patients with Human Epidermal Growth Factor Receptor 2-and Hormone Receptor-Positive Metastatic Breast Cancer: Real World Experience in China
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)
Journal of genetic medicine
2019 .01
-
The association between idiopathic scoliosis and growth hormone treatment in short children
Annals of Pediatirc Endocrinology & Metabolism
2022 .09
-
Effectiveness of growth hormone therapy in children with Noonan syndrome
Annals of Pediatirc Endocrinology & Metabolism
2020 .01
-
Challenges of Growth Hormone Therapy in PWS during Transition
Journal of mucopolysaccharidosis and rare disease
2017 .01
-
Guidelines on hormone therapy in breast cancer
대한외과학회 학술대회 초록집
2016 .11
-
Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature
Annals of Pediatirc Endocrinology & Metabolism
2020 .01
-
The 2020 Menopausal Hormone Therapy Guidelines
대한폐경학회지
2020 .01
-
성인 성장호르몬 결핍증의 진단과 치료
대한내과학회지
2021 .10
-
Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience
Annals of Pediatirc Endocrinology & Metabolism
2024 .02
이 논문의 저자 정보
최근 본 자료
댓글(0)
0