A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report

Introduction Microcephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of en...
Ausführliche Beschreibung

Gespeichert in:
Autor*in:

Pachajoa, Harry [verfasserIn]

Ruiz-Botero, Felipe

Isaza, Carolina

Format:

E-Artikel

Sprache:

Englisch

Erschienen:

2014

Schlagwörter:

Microcephalic osteodysplastic primordial dwarfism

Birth defects

Primordial dwarfism

Anmerkung:

© Pachajoa et al.; licensee BioMed Central Ltd. 2014

Übergeordnetes Werk:

Enthalten in: Journal of medical case reports - London : BioMed Central, 2007, 8(2014), 1 vom: 13. Juni

Übergeordnetes Werk:

volume:8 ; year:2014 ; number:1 ; day:13 ; month:06

Links:

Volltext

DOI / URN:

10.1186/1752-1947-8-191

Katalog-ID:

SPR03105479X

Nicht das Richtige dabei?

Schreiben Sie uns!