Research map: Approach to The Patient With Combined Pituitary Hormone Deficiency Due to a Novel Homozygous LHX3 Variant

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  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
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  9. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency · Irène Netchine · 2000 · 370 citations · Cited by this paper
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  13. Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues · Alexander B. Zhadanov · 1995 · 160 citations · Cited by this paper
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  15. Four Novel Mutations of the LHX3 Gene Cause Combined Pituitary Hormone Deficiencies with or without Limited Neck Rotation · Roland W. Pfaeffle · 2007 · 125 citations · Cited by this paper
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  19. Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development · Rachel D. Mullen · 2007 · 108 citations · Cited by this paper
  20. Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss · A Rajab · 2008 · 106 citations · Cited by this paper
  21. A Novel LHX3 Mutation Presenting as Combined Pituitary Hormonal Deficiency · Amrit Bhangoo · 2006 · 97 citations · Cited by this paper
  22. The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism · Daniel Kelberman · 2006 · 62 citations · Cited by this paper
  23. Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9 · Kyle W. Sloop · 2000 · 38 citations · Cited by this paper
  24. Genomic Structure and Chromosomal Localization of the Mouse LIM/Homeobox Gene Lhx3 · Alexander B. Zhadanov · 1995 · 32 citations · Cited by this paper
  25. Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency · Nicolas D. Jullien · 2018 · 28 citations · Cited by this paper
  26. A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency · Susanne Bechtold‐Dalla Pozza · 2012 · 24 citations · Cited by this paper
  27. Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss · Khushnooda Ramzan · 2017 · 19 citations · Cited by this paper
  28. Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report · Shuang-Zhu Lin · 2022 · 5 citations · Cited by this paper
  29. Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene · Åsa Kjellgren · 2024 · 2 citations · Cited by this paper

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