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Clinical Dysmorphology|April 1, 1997
Selective IgG2 subclass deficiency--a marker for the syndrome of pre/postnatal growth retardation, developmental delay, hypotrophy of distal extremities, dental anomalies and eczemaS B Ainsworth, M Baraitser, R F Mueller, et al.
Clinical Dysmorphology|April 1, 1997
Fibrochondrogenesis: clinical and radiological featuresL I al-Gazali, D Bakalinova, M Bakir, et al.
Clinical Dysmorphology|April 12, 2014
Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathyEllyze van Asbeck, Arivudainambi Ramalingam, Chris Dvorak, et al.
Clinical Dysmorphology|October 12, 2014
Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome)Luis E Becerra-Solano, Liliana Chacon, Dinorah Morales-Mata, et al.
Clinical Dysmorphology|November 24, 2020
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic faciesShivani Mishra, Katta Mohan Girisha, Anju Shukla
Clinical Dysmorphology|January 31, 2018
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian childrenKris P T Yu, Ho-Ming Luk, Christopher T Gordon, et al.
Clinical Dysmorphology|June 6, 2021
CK syndrome: a rare cause of developmental delay in a young boyMeenal Garg, Shilpa D Kulkarni, Rafat Sayed, et al.
Clinical Dysmorphology|September 21, 2020
Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case reportHui Wang, Xiaohua Zhang, Hongfang Ding
Clinical Dysmorphology|November 30, 2021
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variantsAmita Moirangthem, Deepti Saxena, Suzena Masih, et al.
Clinical Dysmorphology|April 16, 2019
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literatureJiin Ying Lim, Neha Singh Bhatia, Rashida Farhad Vasanwala, et al.
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