Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update

Fiorella Gurrieri, David B. Everman

Risultato della ricerca: Contributo in rivistaArticolo in rivista

26 Citazioni (Scopus)

Abstract

We here provide an update on the clinical, genetic, and molecular aspects of split-hand/foot malformation (SHFM). This rare condition, affecting 1 in 8,500-25,000 newborns, is extremely complex because of its variability in clinical presentation, irregularities in its inheritance pattern, and the heterogeneity of molecular genetic alterations that can be found in affected individuals. Both syndromal and nonsyndromal forms are reviewed and the major molecular genetic alterations thus far reported in association with SHFM are discussed. This updated overview should be helpful for clinicians in their efforts to make an appropriate clinical and genetic diagnosis, provide an accurate recurrence risk assessment, and formulate a management plan.
Lingua originaleEnglish
pagine (da-a)2860-2872
Numero di pagine13
RivistaAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Stato di pubblicazionePubblicato - 2013

Keywords

  • split hand split foot

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