Cargando…

Short stature with precocious puberty caused by aggrecan gene mutation: A case report

INTRODUCTION: The present study is carried out to review the clinical data and gene detection results of a pediatric patient with short stature, and to summarize the relationship between clinical phenotype and genotype of the child with Aggrecan (ACAN) gene mutation. PATIENT CONCERNS: Our study was...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Yuanyuan, Ge, Juan, Ma, Jianying, Qiao, Lingyan, Li, Tang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2020
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7447401/ https://www.ncbi.nlm.nih.gov/pubmed/32846772 http://dx.doi.org/10.1097/MD.0000000000021635

Ejemplares similares

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review
por: Liu, Lifang, et al.
Publicado: (2023)

Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation
por: Tatsi, Christina, et al.
Publicado: (2017)

A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene
por: Wang, Liping, et al.
Publicado: (2021)

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report
por: Duque-Cordoba, Paola Andrea, et al.
Publicado: (2023)

A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease: A case report
por: Wang, He, et al.
Publicado: (2022)

De Novo mutation of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins: A case report
por: Deng, Lili, et al.
Publicado: (2021)

The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant
por: Zhang, Qiang, et al.
Publicado: (2020)

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review
por: Zhang, Zhaorui, et al.
Publicado: (2022)

Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review
por: Yin, Li-Ping, et al.
Publicado: (2022)

Hypertrophic cardiomyopathy caused by a heterozygous variant in TTR gene: A case report
por: Yuan, Huayuan, et al.
Publicado: (2023)

CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia
por: Liu, Li, et al.
Publicado: (2021)

Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series
por: Wang, Jiuxiang, et al.
Publicado: (2021)

A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China
por: Wu, Wenjuan, et al.
Publicado: (2019)

A novel PMP22 insertion mutation causing Charcot–Marie–Tooth disease type 3: A case report
por: Han, Liang, et al.
Publicado: (2021)

Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report
por: Wang, Dongbo, et al.
Publicado: (2022)

Uncovering a new SASH1 mutation associated with dyschromatosis universalis hereditaria using whole-exome-sequencing: A case report
por: Yang, Yue, et al.
Publicado: (2023)

A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome
por: Han, Rui, et al.
Publicado: (2021)

HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review
por: Li, Shuang, et al.
Publicado: (2023)

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report
por: Otsuki, Yuki, et al.
Publicado: (2020)

EFNA1 is a potential key gene that correlates with immune infiltration in low-grade glioma
por: Hao, Yong-Ping, et al.
Publicado: (2021)

Two mutations in the axonemal dynein heavy chain gene 5 in a Chinese asthenozoospermia patient: A case report
por: He, Jing, et al.
Publicado: (2020)

Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene
por: Duan, Yanjie, et al.
Publicado: (2021)

Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study
por: Dytz, Marcio Garrison, et al.
Publicado: (2015)

A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report
por: Xie, Dan, et al.
Publicado: (2023)

CT perfusion imaging parameters and serum miR-106a-5p predict short- and long-term prognosis in acute cerebral infarction patients after intravenous thrombolysis
por: Du, Juan, et al.
Publicado: (2023)

Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report
por: Lee, Sook Joung, et al.
Publicado: (2020)

Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report
por: Bi, Ye, et al.
Publicado: (2023)

Pain correlates with germline mutation in schwannomatosis
por: Jordan, Justin T., et al.
Publicado: (2018)

Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report
por: Zhang, HaoZheng, et al.
Publicado: (2023)

Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report
por: Huang, Xinyi, et al.
Publicado: (2022)

RAS Mutations in AUS/FLUS Cytology: Does it Have an Additional Role in BRAF(V600E) Mutation-Negative Nodules?
por: Yoon, Jung Hyun, et al.
Publicado: (2015)

Identification of THSD7B and PRMT9 mutations as risk factors for familial lung adenocarcinoma: A case report
por: Zhang, Qianqian, et al.
Publicado: (2023)

C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report
por: Zhang, Yan, et al.
Publicado: (2020)

Family history and renin-angiotensin system gene polymorphisms in Chinese patients with type 2 diabetes mellitus
por: Pan, Yan-Hong, et al.
Publicado: (2017)

Correlation between SHBG gene polymorphism and male infertility in Han population of Henan province of China: A STROBE-compliant article
por: Cui, Yuan-rong, et al.
Publicado: (2017)

Clinicopathological characteristics of TERT promoter mutation and telomere length in hepatocellular carcinoma
por: Lee, Hye Won, et al.
Publicado: (2017)

Kallmann syndrome with a Tyr113His PROKR2 mutation
por: Ha, Jeong-Ha, et al.
Publicado: (2017)

Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del (p.Pro809Hisfs(∗)2) in the F5 gene: A case report
por: Park, Chang-Hun, et al.
Publicado: (2020)

Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review
por: Li, Niu, et al.
Publicado: (2017)

Fibrodysplasia ossificans progressiva in a young adult with genetic mutation: Case report
por: Wang, Zhankui, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_4454f7c5mg76hvg2groklvdtqb