title: Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH:  a useful lesson.
authors.affiliation: Departments of Pediatrics Oral Sciences, Nano and Biotechnology, G. d'Annunzio University, Chieti Medical Genetic Unit, Fondazione IRCCS C'a Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Palka
authors.forename: Ivana
authors.initials: I
authors.lastname: Antonucci
authors.forename: Melissa
authors.initials: M
authors.lastname: Alfonsi
authors.forename: Maria Francesca
authors.initials: MF
authors.lastname: Bedeschi
authors.forename: Angelika
authors.initials: A
authors.lastname: Mohn
authors.forename: Faustina
authors.initials: F
authors.lastname: Lalatta
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
authors.forename: Giandomenico
authors.initials: G
authors.lastname: Palka
authors.forename: Liborio
authors.initials: L
authors.lastname: Stuppia
mesh_terms: D059327:Brachydactyly / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D005091:Exons; D005260:Female; D050278:Finger Phalanges / Q000000981:diagnostic imaging; D005817:Genetic Counseling; D018740:Genetic Heterogeneity; D053823:Hedgehog Proteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011859:Radiography; D050277:Toe Phalanges / Q000000981:diagnostic imaging
chemical_list: D053823:Hedgehog Proteins; C509246:IHH protein, human