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Article . 2012
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Clinical Dysmorphology
Article . 2012 . Peer-reviewed
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Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH

a useful lesson
Authors: PALKA, CHIARA; ANTONUCCI, IVANA; Alfonsi M; Bedeschi MF; MOHN, Angelika Anna; Lalatta F; CHIARELLI, Francesco; +2 Authors

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH

Abstract

Departments of Pediatrics, Oral Sciences, Nano and Biotechnology, G. d’Annunzio University, Chieti and Medical Genetic Unit, Fondazione IRCCS C’a Granda Ospedale Maggiore Policlinico, Milan, Italy Correspondence to Dr Chiara Palka, MD, Department of Pediatrics, G. d’Annunzio University, Via dei Vestini, 15, 66100 Chieti, Italy Tel: + 39 0871 358015; fax: + 39 0871 574831; e-mail: chiarapalka@libero.it

Country
Italy
Keywords

Male, Heterozygote, Brachydactyly, Infant, Newborn, Mutation, Missense, Genetic Counseling, Exons, sonic hedgehog protein, Pedigree, Radiography, Finger Phalanges, Genetic Heterogeneity, Phenotype, Italy, Pregnancy, Prenatal Diagnosis, Humans, Female, Hedgehog Proteins, Toe Phalanges

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
2
Average
Average
Average
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