Disorders


 

LHX4-Related Combined Pituitary Hormone Deficiency


Synonym(s): Combined Pituitary Hormone Deficiency 4, Short Stature, Pituitary and Cerebellar Defects, and Small Sella Turcica

 

OMIM

GeneLocusProtein
LHX41q25.3LIM/homeobox protein Lhx4

Laboratory Test Method Prenatal Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands• Sequence analysis of the entire coding region
  
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA• Sequence analysis of the entire coding region
 
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France• Sequence analysis of the entire coding region
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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