A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome (1985)
- Authors:
- USP affiliated author: COSTA, ANTONIO RICHIERI DA - HRAC
- School: HRAC
- DOI: 10.1002/ajmg.1320200409
- Subjects: ANORMALIDADES CONGÊNITAS; RETARDO MENTAL; FISSURA LÁBIOPALATINA; DISOSTOSE CRÂNIOFACIAL
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: American Journal of Medical Genetics
- Volume/Número/Paginação/Ano: v. 20, n. 4, p. 631-638, Apr. 1985
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
RICHIERI-COSTA, Antonio; COLLETTO, G. M. D. D.; GOLLOP, T. R.; MASIERO, D. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. American Journal of Medical Genetics, New York, v. 20, n. 4, p. 631-638, 1985. DOI: 10.1002/ajmg.1320200409. -
APA
Richieri-Costa, A., Colletto, G. M. D. D., Gollop, T. R., & Masiero, D. (1985). A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. American Journal of Medical Genetics, 20( 4), 631-638. doi:10.1002/ajmg.1320200409 -
NLM
Richieri-Costa A, Colletto GMDD, Gollop TR, Masiero D. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. American Journal of Medical Genetics. 1985 ; 20( 4): 631-638. -
Vancouver
Richieri-Costa A, Colletto GMDD, Gollop TR, Masiero D. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. American Journal of Medical Genetics. 1985 ; 20( 4): 631-638. - Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies
- Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects
- Brief clinical report: FG syndrome in a Brazilian child with additional previously unreported signs
- Aspectos da fluência em tarefa de narrativa oral na síndrome del22q11.2
- Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
- Variable expressivity of the acheiropodia gene
- Van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures
- Holoprosencephaly-like phenotype: clinical and genetic perspectives
- TBX22 mutations are a frequent cause of cleft palate
- Craniofacial syndromes observed at the depatament of genetics at Centrinho (1990-1994)
Informações sobre o DOI: 10.1002/ajmg.1320200409 (Fonte: oaDOI API)
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