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Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder
by
Christina G. Tise MD, PhD
,
Melinda J. Palma MD
,
Kristina P. Cusmano-Ozog MD
,
Dena R. Matalon MD
Published in
JIM - high impact case reports
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Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome
by
Tise, Christina G.
,
Matalon, Dena R.
,
Manning, Melanie A.
,
Byers, Heather M.
,
Grover, Monica
Published in
JIM - high impact case reports
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Jim - High Impact Case Reports
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Child, Preschool
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Coffin-Lowry Syndrome - Genetics
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Dwarfism
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Endocrinology
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Genetic And Molecular Medicine
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Hypercalcemia
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Hypercalcemia - Etiology
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Hypercalcemia - Genetics
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Ribosomal Protein S6 Kinases, 90-Kda - Genetics
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