SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor [1]

American Journal of Medical Genetics

Volumn 136 A, Issue 4, 2005, Pages 345-

  Ei Jaick, Kenia Balbi ^a   Orioli, Iêda Mario ^a   Brunoni, Decio ^b   Castilla, Eduardo E ^c   Moreira, Miguel Angelo ^d  

^a FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c INSTITUTO OSWALDO CRUZ   (Brazil)

^d INSTITUTO NACIONAL DE CÂNCER   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ALOBAR HOLOPROSENCEPHALY; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; FEMALE; FETUS ECHOGRAPHY; FETUS MONITORING; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HOLOPROSENCEPHALY; HUMAN; LETTER; NEWBORN; OBESITY; PENETRANCE; PHENOTYPE; PRENATAL CARE; PRIORITY JOURNAL; SHH GENE; SOLITARY MEDIAN MAXILLARY INCISOR;

ABNORMALITIES, MULTIPLE; CHOANAL ATRESIA; FAMILY HEALTH; FEMALE; GROWTH DISORDERS; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; INCISOR; INFANT, NEWBORN; MAXILLA; MOTHERS; MUTATION, MISSENSE; OBESITY; TRANS-ACTIVATORS;

EID: 23044491634     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30624     Document Type: Letter

References (6)

1. Cohen MM Jr. 1989. Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Problems in the definition of holoprosencephaly. Am J Med Genet 34:271-288.
2. Cohen MM Jr. 2001. Problems in the definition of holoprosencephaly. Am J Med Genet 103:183-187.
3. Dubourg C, Pasquier L, Blayau M, Lazare L, Durou MR, Aguilella C, Odent S, David V. 2002. Holoprosencephaly: Mutational screening and functional analysis of human SHH missense variants. Am Soc Hum Genet 52nd Annual Meeting, Baltimore, MD, October 15-19, Abs. 2020.
4. Nanni L, Ming JE, Du Y, Hall RK, Aldred M, Bankier A, Muenke M. 2001. SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature. Am J Med Genet 102:1-10.
5. Orioli IM, Castilla EE, Ming JE, Nazer J, Burle de Aguiar MJ, Llerena JC, Muenke M. 2001. Identification of novel mutations in SHH and ZIX2 in a South American (ECLAMC) population with holoprosencephaly. Hum Genet 109:1-6.
6. Orioli IM, Cieira AR, Castilla EE, Ming JE, Muenke M. 2002. Mutational analysis of the Sonic hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population. Am J Med Genet 108:12-15.