• Sonuç bulunamadı

Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome

N/A
N/A
Info
İndir
Protected

Academic year: 2021

Share "Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome"

Copied!
1
0
0

Yükleniyor.... (view fulltext now)

Şimdi indir ( 1 sayfa )

Tam metin

(1)

Clinical, biochemical and molecular

investigations of three Taiwanese

children with Laron syndrome

葉健全

Yang C;Chen julia YR;Lai CC;Lin HC;Yeh GC;Hsu HH

摘要

Abstract

Three children of two Taiwanese families were diagnosed with Laron

syndrome, two sisters and one boy. Both sets of parents were consanguineous. Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature, and central obesity. Biochemically, their levels of serum IGF-I were less than 5 microg/ml before and after an IGF-I generation test, and levels of IGFBP-3 were reduced in all three patients. Sequence analysis of the growth hormone receptor gene revealed that all three carried a homozygous missense D152G mutation in exon 6.

Referanslar

Şimdi indir ( PDF - 1 sayfa - 35.12 KB )

Benzer Belgeler

雙和影像醫學部、藥劑部、營養室等首次院外參獎，紛獲殊榮！

雙和影像醫學部、藥劑部、營養室等首次院外參獎，紛獲殊榮！

Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations

Demographical findings and clinical features of the study group CaseGenotypeAge SexSymptom onFamilyCutaneousIDTANDEpilepsySemiologyCT SEN SEGARenalCardiacOphthalmological no

Clinical and Cytogenetic Evaluations of Patients with Turner Syndrome: Are We Aware Enough?

Turner syndrome is a chromosomal disorder, and frequently, it is being misdiagnosed; therefore, any female with short stature and primary or secondary amenorrhea, with or

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis Syndrome: Report of Three Cases

Periyodik ateş, aftöz stomatit, farenjit ve adenit sendromunun tanı- sında iki ayırt edici bulgu 39°C’yi aşan ve 3-6 gün süren, 2-8 hafta- da bir görülen yüksek

Comparison of the Efficacy of Three Natural Surfactants in Preterm Turkish Newborns with Respiratory Distress Syndrome

The groups were compared according to demographic characteristics, 1- and 5-minute Apgar scores, weight percentiles by gestational week, presence of pulmonary hemorrhage,

Oral Bacteria of Children with Turner Syndrome

Plaque index and gingival index levels were significantly higher in the Turner group and dft was significantly higher in the control group (p<0.05).. As a result, microarray

Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey

no studies in Turkey on MPS II patients, the objective of this study is to present the genetic and clinical characteristics of patients in Western Turkey with Hunter

Three Single Nucleotide Polymorphisms of in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

Objectives: To investigate the three single nucleotide polymorphisms (SNPs) (rs3825942, rs1048661, and rs2165241) of the LOXL1 gene in pseudoexfoliation syndrome (XFS)