Associated Papers
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant.
Santoro C et al.
Children (basel, Switzerland), 2025
40150646 (PubMed )
Supplement: children-12-00364-s001.zip › children-3478755-TABLE_6_-_SUPPLEMENTAL_MATERIAL.xlsx › Foglio1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2.
Hemwong N et al.
Journal of Advanced Research, 2020
Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations.
Tajima T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2013
Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.
Takagi M et al.
Plos One, 2012
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