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1.
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion.
Am J Med Genet A
; 158A(7): 1676-9, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22628242
2.
Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?
Am J Med Genet A
; 152A(7): 1838-40, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20583178
3.
Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?
Am J Med Genet A
; 149A(12): 2762-4, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19921636
4.
Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.
Eur J Med Genet
; 51(3): 183-96, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-18276201
5.
Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.
Clin Dysmorphol
; 17(3): 225-226, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-18541977
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