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Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.
Am J Med Genet A 2004; 127A(1):93-5AJ

Abstract

Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation of holoprosencephaly (HPE). Some reported families had severe cases of HPE in some members and SMMCI in others. Mutations of Sonic Hedgehog (SHH) have been documented in these families. SMMCI has also been found as an isolated finding or together with other anomalies such as microcephaly, short stature, endocrine pathology, and choanal atresia. We describe a patient with SMMCI and a novel SHH mutation: Val332Ala.

Authors+Show Affiliations

Department of Pediatrics and Clinical Genetics, S. Maria Nuova Hospital, 80-42100 Reggio Emilia, Italy. garavelli.livia@asmn.re.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15103725

Citation

Garavelli, Livia, et al. "Solitary Median Maxillary Central Incisor Syndrome: Clinical Case With a Novel Mutation of Sonic Hedgehog." American Journal of Medical Genetics. Part A, vol. 127A, no. 1, 2004, pp. 93-5.
Garavelli L, Zanacca C, Caselli G, et al. Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. Am J Med Genet A. 2004;127A(1):93-5.
Garavelli, L., Zanacca, C., Caselli, G., Banchini, G., Dubourg, C., David, V., ... Neri, G. (2004). Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. American Journal of Medical Genetics. Part A, 127A(1), pp. 93-5.
Garavelli L, et al. Solitary Median Maxillary Central Incisor Syndrome: Clinical Case With a Novel Mutation of Sonic Hedgehog. Am J Med Genet A. 2004 May 15;127A(1):93-5. PubMed PMID: 15103725.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. AU - Garavelli,Livia, AU - Zanacca,C, AU - Caselli,G, AU - Banchini,G, AU - Dubourg,C, AU - David,V, AU - Odent,S, AU - Gurrieri,F, AU - Neri,G, PY - 2004/4/23/pubmed PY - 2004/11/13/medline PY - 2004/4/23/entrez SP - 93 EP - 5 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 127A IS - 1 N2 - Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation of holoprosencephaly (HPE). Some reported families had severe cases of HPE in some members and SMMCI in others. Mutations of Sonic Hedgehog (SHH) have been documented in these families. SMMCI has also been found as an isolated finding or together with other anomalies such as microcephaly, short stature, endocrine pathology, and choanal atresia. We describe a patient with SMMCI and a novel SHH mutation: Val332Ala. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15103725/Solitary_median_maxillary_central_incisor_syndrome:_clinical_case_with_a_novel_mutation_of_sonic_hedgehog_ L2 - https://doi.org/10.1002/ajmg.a.20685 DB - PRIME DP - Unbound Medicine ER -