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Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.
Ain, Noor U; Muhammad, Niaz; Dianatpour, Mehdi; Baroncelli, Marta; Iqbal, Muddassar; Fard, Mohammad A F; Bukhari, Ihtisham; Ahmed, Sufian; Hajipour, Massoumeh; Tabatabaie, Zahra; Foroutan, Hamidreza; Nilsson, Ola; Faghihi, Mohammad A; Makitie, Outi; Naz, Sadaf.
Afiliación
  • Ain NU; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
  • Muhammad N; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Dianatpour M; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
  • Baroncelli M; Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Iqbal M; Stem Cell Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Fard MAF; Division of pediatric endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.
  • Bukhari I; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
  • Ahmed S; Persian BayanGene Research and Training Center, Shiraz, Iran.
  • Hajipour M; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
  • Tabatabaie Z; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
  • Foroutan H; Persian BayanGene Research and Training Center, Shiraz, Iran.
  • Nilsson O; Persian BayanGene Research and Training Center, Shiraz, Iran.
  • Faghihi MA; Laparoscopy research center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Makitie O; Division of pediatric endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.
  • Naz S; School of Medical Sciences, Örebro University and Örebro University Hospital, Örebro, Sweden.
Hum Mutat ; 42(1): 89-101, 2021 01.
Article en En | MEDLINE | ID: mdl-33252156
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Enanismo / Proteínas de la Membrana Límite: Animals / Female / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Pakistán
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Enanismo / Proteínas de la Membrana Límite: Animals / Female / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Pakistán