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McCune-Albright syndrome
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Summary of McCune-Albright syndrome
McCune-Albright syndrome is characterized by the triad of patchy skin pigmentation, bone abnormalities, and endocrine hormonal abnormalities. It is a result of a random mutation in the GNAS gene involved in G-protein signaling. It presents with large cafe-au-lait (light brown) spots, multiple endocrine abnormalities, precocious puberty, and polyostotic fibrous dysplasia.

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Notes

Cellular and molecular biology

Molecular biology

Molecular biology
Nuclear structure
DNA structure
Transcription of DNA
Translation of mRNA
Gene regulation
Epigenetics
Amino acids and protein folding
Protein structure and synthesis
Nucleotide metabolism
DNA replication
Lac operon
DNA damage and repair
Cell cycle
Mitosis and meiosis
DNA mutations
Disorders of molecular biology
Lesch-Nyhan syndrome
Orotic aciduria
Adenosine deaminase deficiency
Xeroderma pigmentosum
Li-Fraumeni syndrome
Bloom syndrome
Fanconi anemia
McCune-Albright syndrome
Acute radiation syndrome
Purine and pyrimidine synthesis and metabolism disorders: Pathology Review

Assessments
McCune-Albright syndrome

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High Yield Notes
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Flashcards

McCune-Albright syndrome

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Precocious puberty in McCune-Albright syndrome is gonadotropin (independent/dependent) , thus gonadotropin-releasing hormone agonist therapy is not effective.

Questions

USMLE® Step 1 style questions USMLE

2 questions

USMLE® Step 2 style questions USMLE

2 questions
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A 8-year-old boy is brought to the emergency room after a severe fall from a tree during a family vacation. His mother reports a history of recurrent fractures. Physical examination shows visible scoliosis and large areas of light brown hyperpigmentation with jagged borders on the right side of his back. Armpit hair and facial hair is also noted. His voice is noticeably deeper than most young boys his age. Which of the following gene mutations is most likely the cause of his condition?

External References