Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report

Roudgari H, Farndon PA, Murray AD, Hardy C, Miedzybrodzka Z. Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report. The relationship of mutations in the patched gene PTCH and nevoid basal cell carcinom...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Clinical genetics 2012-07, Vol.82 (1), p.71-76
Hauptverfasser:	Roudgari, H, Farndon, P A, Murray, A D, Hardy, C, Miedzybrodzka, Z
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult basal cell carcinoma Basal Cell Nevus Syndrome - genetics Basal Cell Nevus Syndrome - pathology Biological and medical sciences Birth defects Codon, Nonsense Dermatology DNA Mutational Analysis Encephalocele - genetics Encephalocele - pathology Exons Fundamental and applied biological sciences. Psychology Genes Genetics of eukaryotes. Biological and molecular evolution Gorlin syndrome Haploinsufficiency Humans Male Medical genetics Medical sciences meningocele Middle Aged mild mental retardation Molecular and cellular biology Neural Tube - metabolism Neural Tube - pathology neural tube defects nevoid basal cell carcinoma Patched Receptors Patched-1 Receptor PTCH gene Receptors, Cell Surface - genetics Spina bifida Spina Bifida Occulta - genetics Spina Bifida Occulta - pathology Spinal cord Tumors of the skin and soft tissue. Premalignant lesions
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!