Case report: a novel mutation in trps1 identified in a chinese family with tricho-rhino-phalangeal syndrome i: a therapeutic challenge

HIGHLIGHTS

  • who: Qi Huang and collaborators from the (UNIVERSITY) have published the article: Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge, in the Journal: (JOURNAL)

SUMMARY

    Frontiers in Pediatrics frontiersin.org 10.3389/fped.2022.990230 Upon admission, a routine examination revealed that the boy`s weight was 81 kg (>97th percentile) and his standing height was 152.2 cm (3rd percentile). She showed a brachydactyly with obvious clinodactyly, a deviation of the forefinger, middle fingers and ring fingers bilaterally. Radiography . . .

     

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