TY - GEN AU - Zerkaoui,Maria AU - Demain,Leigh A M AU - Cherkaoui Jaouad,Imane AU - Ratbi,Ilham AU - Amjoud,Karima AU - Urquhart,Jill E AU - O'Sullivan,James AU - Newman,William G AU - Sefiani,Abdelaziz TI - Marfanoid habitus is a nonspecific feature of Perrault syndrome SN - 1473-5717 PY - 2018///0705 KW - Adolescent KW - Amino Acid Sequence KW - Amino Acyl-tRNA Synthetases KW - chemistry KW - Base Sequence KW - Female KW - Genotype KW - Gonadal Dysgenesis, 46,XX KW - complications KW - Hearing Loss, Sensorineural KW - Humans KW - Male KW - Marfan Syndrome KW - Pedigree KW - Phenotype KW - Reproducibility of Results KW - Exome Sequencing KW - Young Adult N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1097/MCD.0000000000000198 ER -