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Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype.
- Source :
-
Clinical dysmorphology [Clin Dysmorphol] 2008 Jul; Vol. 17 (3), pp. 189-191. - Publication Year :
- 2008
- Subjects :
- Abnormalities, Multiple pathology
Adolescent
Blepharophimosis pathology
Blepharoptosis genetics
Blepharoptosis pathology
Chronic Kidney Disease-Mineral and Bone Disorder genetics
Chronic Kidney Disease-Mineral and Bone Disorder pathology
Female
Fibrous Dysplasia, Polyostotic pathology
Foot Deformities, Congenital genetics
Foot Deformities, Congenital pathology
Hand Deformities, Congenital genetics
Hand Deformities, Congenital pathology
Humans
Phenotype
Abnormalities, Multiple genetics
Blepharophimosis genetics
Chromosome Deletion
Chromosomes, Human, Pair 3
Eyelids abnormalities
Fibrous Dysplasia, Polyostotic genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0962-8827
- Volume :
- 17
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Clinical dysmorphology
- Publication Type :
- Academic Journal
- Accession number :
- 18541966
- Full Text :
- https://doi.org/10.1097/MCD.0b013e3282f4a984