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Genetic Diagnosis in an Indian Child with Alagille Syndrome

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References

  1. Spinner NB, Leonard LD, Krantz ID. Alagille syndrome. 2000 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. Gene Reviews® [Internet]. Seattle: University of Washington, Seattle; 1993–2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1273/.

  2. Krantz ID, Colliton RP, Genin A, Rand EB, Li L, Piccoli DA, et al. Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. Am J Hum Genet. 1998;62:1361–9.

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Acknowledgments

The authors appreciate the efforts of Dr. Parag Tamhankar for creative inputs to improve the manuscript.

Contributions

SA diagnosed and managed the case, contributed to manuscript and will be guarantor. VC performed molecular testing and wrote the manuscript. PA wrote the manuscript and helped in review of literature.

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None

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Authors and Affiliations

  1. Ekta Institute of Child Health, Shantinagar, Raipur, 492001, Chhattisgarh, India

    Sanwar Agrawal & Pulak Agrawal

  2. A to Z Genetic Services, Mangareesh Clinic, Shop no 8/9, Dr Batliwala Lane, Parel, Mumbai, India

    Vasundhara Chennuri

Authors
  1. Sanwar Agrawal
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  2. Vasundhara Chennuri
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  3. Pulak Agrawal
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Correspondence to Sanwar Agrawal.

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Agrawal, S., Chennuri, V. & Agrawal, P. Genetic Diagnosis in an Indian Child with Alagille Syndrome. Indian J Pediatr 82, 653–654 (2015). https://doi.org/10.1007/s12098-014-1684-0

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  • DOI: https://doi.org/10.1007/s12098-014-1684-0

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