Introducci�n: El MLPA (amplificaci�n de sondas dependiente de ligandos m�ltiples) es un
m�todo reciente, basado en la reacci�n en cadena de la polimerasa (RCP), de cuantificaci�n …

Antecedentes: el diagn�stico prenatal invasivo permite identificar si el feto tiene o no
enfermedades, sobre todo aneuploid�as. Con la incorporaci�n del tamiz prenatal del primer …

Establishing the genotypes of patients with hyperphenylalaninemia (HPA)/phenylketonuria (PKU,
MIM#261600) has been considered a cornerstone for rational medical management. …

Inherited and developmental eye diseases are quite diverse and numerous, and determining
their genetic cause is challenging due to their high allelic and locus heterogeneity. New …

CRISPR/Cas genes evolved in prokaryotic organisms as a mechanism of defense designed
to identify and destroy genetic material from threatening viruses. A breakthrough discovery …

The clinical diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when
microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral, and/…

Introduction: The inherited bone marrow failure syndromes (IBMFSs) are a group of rare
disorders characterized by bone marrow failure (BMF), physical abnormalities, and an …

Introduction: The MLPA (multiplex ligation-dependent probe amplification) is a new method
based on polimerase chain reaction (PCR) for relative quantification of normal and abnormal …

Background: Invasive prenatal diagnosis (IPD) allows identification of fetal diseases, mainly
aneuploidy. With the addition of first-trimester prenatal screening and structural ultrasound, …

Background Tetrahydrobiopterin (BH4) is the cofactor for 6-pyruvoyl-tetrahydropterin synthase
(PTPS); it is involved in BH4 biosynthesis and is encoded by PTS gene. Its deficiency (…