| Title |
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
|
|---|---|
| Published in |
Molecular Diagnosis & Therapy, February 2018
|
| DOI | 10.1007/s40291-018-0319-y |
| Pubmed ID | |
| Authors |
Paola Concolino, Alessandra Costella |
| Abstract |
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by complete or partial defects in one of the several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands. More than 95-99% of all cases of CAH are caused by deficiency of steroid 21-hydroxylase, an enzyme encoded by the CYP21A2 gene. Currently, CYP21A2 genotyping is considered a valuable complement to biochemical investigations in the diagnosis of 21-hydroxylase deficiency. More than 200 mutations have been described in literature reports, and much energy is still focused on the clinical classification of new variants. In this review, we focus on molecular genetic features of 21-hydroxylase deficiency, performing an extensive survey of all clinical pathogenic variants modifying the whole sequence of the CYP21A2 gene. Our aim is to offer a very useful tool for clinical and genetic specialists in order to ease clinical diagnosis and genetic counseling. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 53 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 7 | 13% |
| Student > Ph. D. Student | 6 | 11% |
| Student > Bachelor | 6 | 11% |
| Student > Doctoral Student | 4 | 8% |
| Other | 4 | 8% |
| Other | 9 | 17% |
| Unknown | 17 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 15 | 28% |
| Biochemistry, Genetics and Molecular Biology | 9 | 17% |
| Agricultural and Biological Sciences | 3 | 6% |
| Neuroscience | 2 | 4% |
| Business, Management and Accounting | 1 | 2% |
| Other | 5 | 9% |
| Unknown | 18 | 34% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 18 February 2018.
All research outputs
#14,839,807
of 23,023,224 outputs
Outputs from Molecular Diagnosis & Therapy
#209
of 385 outputs
Outputs of similar age
#273,303
of 474,288 outputs
Outputs of similar age from Molecular Diagnosis & Therapy
#4
of 7 outputs
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