Guido Stichtenoth
Biographic Data
| ID | 7606665 |
|---|---|
| NAME | Guido Stichtenoth |
| GIVEN NAMES | Guido |
| FAMILY NAME | Stichtenoth |
| SIGNATURE | STICHTENOTH G |
| AFFILIATIONS | University Hospital Schleswig-Holstein |
| ORCID | 0000-0003-1769-1859 |
| VERIFIED | Yes |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2022 |
| LATEST PUBLICATION YEAR | 2022 |
| H-INDEX | 0 |
Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants
Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN) and has been known to be severely life-shortening, mainly due to respiratory insufficiency. Patients with this condition have been predominantly treated by pediatricians as they usually do not survive beyond childhood. In this case report, we present a young adult who developed se…
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Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants
Lethal congenital contracture syndrome 11 (LCCS11) is a form of arthrogryposis multiplex congenita (AMC) which is associated with mutations in the gliomedin gene (GLDN) and has been known to be severely life-shortening, mainly due to respiratory insufficiency. Patients with this condition have been predominantly treated by pediatricians as they usually do not survive beyond childhood. In this case report, we present a young adult who developed se…
Arthrogryposis (1 work) · Arthrogryposis multiplex congenita (1 work) · Biology (1 work) · Compound heterozygosity (1 work) · Congenital Diaphragmatic Hernia Studies (1 work) · Diaphragmatic breathing (1 work) · Differential diagnosis (1 work) · Gene (1 work) · Genetics (1 work) · Internal Medicine (1 work)