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Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.
- Source :
-
Clinical dysmorphology [Clin Dysmorphol] 2021 Jan; Vol. 30 (1), pp. 58-61. - Publication Year :
- 2021
- Subjects :
- Alleles
Collagen Type XI genetics
Diagnosis, Differential
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Genotype
Humans
Infant
Male
Phenotype
Arthritis diagnosis
Arthritis genetics
Cataract diagnosis
Cataract genetics
Collagen Type XI deficiency
Connective Tissue Diseases diagnosis
Connective Tissue Diseases genetics
Craniofacial Abnormalities diagnosis
Craniofacial Abnormalities genetics
Hearing Loss, Sensorineural diagnosis
Hearing Loss, Sensorineural genetics
Osteochondrodysplasias diagnosis
Osteochondrodysplasias genetics
Retinal Detachment diagnosis
Retinal Detachment genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1473-5717
- Volume :
- 30
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Clinical dysmorphology
- Publication Type :
- Academic Journal
- Accession number :
- 32897902
- Full Text :
- https://doi.org/10.1097/MCD.0000000000000346