scholarly journals Phenotypic spectrum of patients with cystic fibrosis and cystic fibrosis-related disease carrying p.Arg117His

2019 ◽  
Vol 18 (2) ◽  
pp. 265-270 ◽  
Author(s):  
Katherine Keenan ◽  
Annie Dupuis ◽  
Katherine Griffin ◽  
Carlo Castellani ◽  
Elizabeth Tullis ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Related Disease ◽  
Phenotypic Spectrum ◽  
Spectrum Of Patients

Mutation and Phenotypic Spectrum of Patients With RASopathies

2020 ◽  
Vol 58 (1) ◽  
pp. 30-33
Author(s):  
Meenakshi Lallar ◽  
Sunita Bijarnia-Mahay ◽  
I. C. Verma ◽  
Kaushik Mandal ◽  
Ratna Dua Puri
Keyword(s):  
Phenotypic Spectrum ◽  
Spectrum Of Patients

Cystic Fibrosis and Formes Frustes of CFTR-Related Disease

Respiration ◽  
2007 ◽  
Vol 74 (3) ◽  
pp. 241-251 ◽  
Author(s):  
Kevin W. Southern
Keyword(s):  
Cystic Fibrosis ◽  
Related Disease

Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy

2020 ◽  
Vol 62 (10) ◽  
pp. 1213-1220 ◽  
Author(s):  
Ying Yang ◽  
Wenshu Xiangwei ◽  
Xiaoli Zhang ◽  
Jiangxi Xiao ◽  
Jiaoyang Chen ◽  
...  
Keyword(s):  
Febrile Seizures ◽  
Epileptic Encephalopathy ◽  
Phenotypic Spectrum ◽  
Spectrum Of Patients

Novel mutations in TUBB8 expand the mutational and phenotypic spectrum of patients with zygotes containing multiple pronuclei

Gene ◽  
2021 ◽  
Vol 769 ◽  
pp. 145227
Author(s):  
Qianqian Sha ◽  
Wei Zheng ◽  
Xie Feng ◽  
Ruiying Yuan ◽  
Huiling Hu ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Phenotypic Spectrum ◽  
Spectrum Of Patients

Clinical characteristics and genetic analysis of cystic fibrosis transmembrane conductance reseptor‐related disease

2020 ◽  
Vol 62 (5) ◽  
pp. 629-633 ◽  
Author(s):  
Ayse Ayzit Kilinc ◽  
Gulizar Alishbayli ◽  
Hasan Emir Taner ◽  
Fugen Cullu Cokugras ◽  
Haluk Cokugras
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Analysis ◽  
Clinical Characteristics ◽  
Transmembrane Conductance ◽  
Related Disease ◽  
Cystic Fibrosis Transmembrane

scholarly journals Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

2022 ◽  
Author(s):  
Ja Hye Kim ◽  
Yunha Choi ◽  
Soojin Hwang ◽  
Gu-Hwan Kim ◽  
Han-Wook Yoo ◽  
...  
Keyword(s):  
Short Stature ◽  
Hypogonadotropic Hypogonadism ◽  
Charge Syndrome ◽  
Large Deletion ◽  
Hormone Deficiency ◽  
Delayed Puberty ◽  
Unilateral Deafness ◽  
Phenotypic Spectrum ◽  
Ear Anomalies ◽  
Spectrum Of Patients

Objective: Heterozygous CHD7 mutations cause a broad spectrum of clinical phenotypes ranging from typical CHARGE syndrome to self-limited delayed puberty. This study aimed to investigate the clinical characteristics of endocrine dysfunction in patients with CHD7 mutations. Methods: The clinical features and endocrine findings from 30 patients with CHD7 variants were retrospectively reviewed. A diagnosis of CHARGE syndrome was based on the Verloes diagnostic criteria. Results: Seventeen patients fulfilled the criteria for typical CHARGE syndrome, one patient for partial/incomplete CHARGE, and the remaining 11 patients had atypical CHARGE syndrome. One patient was diagnosed with Kallmann syndrome and unilateral deafness. The most frequently observed features were inner ear anomalies (80.0%), intellectual disability (76.7%), and external ear anomalies (73.3%). The mean height and weight SDSs at diagnosis were -2.6 ± 1.3 and -2.2 ± 1.8, respectively. Short stature was apparent in 18 patients (60%), and one patient was diagnosed with growth hormone deficiency. Seventeen males showed genital hypoplasia, including micropenis, cryptorchidism, or both. Seven patients after pubertal age had hypogonadotropic hypogonadism with hyposmia/anosmia and olfactory bulb hypoplasia. Truncating CHD7 mutations were the most common (n = 22), followed by missense variants (n = 3), splice-site variants (n = 2), and large deletion (n = 2). Conclusions: A diverse phenotypic spectrum was observed in patients with CHD7 variants, and endocrine defects such as short stature and delayed puberty occurred in most patients. Endocrine evaluation, especially for growth and pubertal impairment, should be performed during diagnosis and follow-up to improve the patient’s quality of life.

The Phenotypic Spectrum of Patients with Genetic variants in Ceruloplasmin

2021 ◽  
Author(s):  
E Pertler ◽  
M Panzer ◽  
A Viveiros ◽  
B Schäfer ◽  
M Plaikner ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Phenotypic Spectrum ◽  
Spectrum Of Patients
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