Authors | H Vassal, A Medeira, I Cordeiro, H G Santos, S Castedo, C Saraiva, P M da Silva, C Monteiro |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 99
Issue 4
Pg. 331-4
(Apr 01 2001)
ISSN: 0148-7299 [Print] United States |
PMID | 11252003
(Publication Type: Case Reports, Letter)
|
Chemical References |
- ARSL protein, human
- Arylsulfatases
|
Topics |
- Abnormalities, Multiple
(enzymology, genetics)
- Arylsulfatases
(deficiency, genetics)
- Child
- Chromosome Deletion
- Developmental Disabilities
(enzymology, genetics)
- Family Health
- Growth Disorders
(enzymology, genetics)
- Humans
- Ichthyosis
(enzymology, genetics)
- Intellectual Disability
(enzymology, genetics)
- Male
- Osteochondrodysplasias
(diagnostic imaging, enzymology, genetics)
- Radiography
- Syndrome
- X Chromosome
(genetics)
|